Themes:

 

Themes:

1.   Rickets. Etiology, pathogenesis, clinical features, diagnostics, treatment and prophylactic.

2.   Hypervitaminosis D. Etiology, pathogenesis, clinical features, diagnostics, treatment and prophylactic, urgent therapy, prognosis.

3.   Spasmophilia. Etiology, pathogenesis, clinical features, diagnostics, treatment and prophylactic, urgenttherapy,prognosis

 

 

Rickets is the most common form of metabolic bone disease in children. Despite the concept that it is a rare disease, it is on the increase in many regions, including Western Europe and the USA. Rickets is widely widespread – 20-60% (because of different diagnostic criteria). Moderate and severe forms 7-10% (in all countries). In the Western world, people with darkly pigmented skin are affected more often. This is probably a result of melanin, which may reduce the penetration of ultraviolet light.

Rickets is a polietiology disease, which is found prevalence in children of early age (prior to the closure of the growth plates). Rickets results from abnormal metabolism of different substances, especially P-Ca metabolism, and leads to disorders in skeletal development.

Rickets develops when growing bones fail to mineralize. In most cases, the diagnosis is established with a thorough history and physical examination and confirmed by laboratory evaluation.

Synonims: Rachitis, English disease, abnormal vitamin D metabolism, osteomalacia in children; deficiency – vitamin D; renal osteodystrophy; pediatric osteomalacia; vitamin D deficiency; renal rickets.

 

 

The term rickets is said to have derived from the ancient English word wricken, which means to bend. In several European countries, rickets also is termed English disease, which appears to stem from the turn of the 19th century in England when rickets was endemic in larger cities.

 

There are many variants (types) of this disease.

I.                  Nutritional rickets or vitamin D-deficiency rickets

II. Vitamin D-dependent rickets

•                    Type I or pseudovitamin D-deficiency rickets (results from abnormalities in the gene coding for renal 25(OH) D -1-alpha-hydroxylase), autosomal recessive disease.

•         Type II or hereditary 1,25-dihydroxyvitamin D-resistant rickets (results from defective vitamin D receptors in target organs. It is an autosomal recessive disease.

III. Vitamin D-resistant rickets (“Looks like rickets”): familial hypophosphatemic, fibrogenesis imperfecta ossium, hereditary X-linked hypophosphatemic rickets, achondroplasia, phosphate diabetes, De Toni-Debre-Fankoni disease et all.

IV. Secondary rickets occurs at other diseases (renal, gastrointestinal, tumor-associated, medications, malabsorption syndromes and so on)

 

Nutritional rickets or vitamin D-deficiency rickets

Nutritional rickets results from inadequate sunlight exposure or inadequate intake of dietary vitamin D, calcium, or phosphorus. Nutritional causes of rickets occur with a lack of vitamin D in the diet or with malabsorption disorders characterized by poor fat absorption, including steatorrhea, sprue, and short bowel syndrome. A dietary lack of vitamin D may occasionally occur in people on a vegetarian diet who do not drink milk products or in people who are lactose intolerant (those who have trouble digesting milk products). A dietary lack of calcium and phosphorous may also play a part iutritional causes of rickets. Rickets from a dietary lack of these minerals is rare because calcium and phosphorous are present in milk and green vegetables. A dietary lack of calcium causes osteoporosis (an adult disorder causing brittle bones) more often than it causes rickets. Dark-skinned persons require more sunlight exposure than others to produce the same amount of vitamin D because melanin acts as a neutral filter and absorbs solar radiation.

 

vitamin d dependent

Vitamin D-dependent rickets, type I is secondary to a defect in the gene that codes for the production of renal 25(OH)D-1-alpha-hydroxylase. Vitamin D-dependent rickets, type II is a rare autosomal recessive disorder caused by mutations in the vitamin D receptor. Type II does not respond to vitamin D treatment. The level of 1,25-dihydroxyvitamin D3 is normal when we have vitamin D-dependent rickets, type II and decreased level of 1,25-dihydroxyvitamin D3 is typical for type I.

 

vitamin d resistant

Rickets refractory to vitamin D treatment may be caused by the most common heritable form, known as vitamin D-resistant rickets or familial hypophosphatemic rickets. Because of mutations of the phosphate-regulating gene on the X chromosome, renal wasting of phosphorus at the proximal tubule level results in hypophosphatemia. Normal levels of calcitriol are found in this disorder.

Hypophosphatemia also can occurred secondary to hereditary hypophosphatemic rickets with hypercalciuria, which is believed to result from an isolated defect in renal reabsorption of phosphorus.

 

other causes

Various medical conditions and medications can cause rickets Rickets caused by renal disease (renal osteodystrophy) is caused by disturbances in calcium and phosphorus regulation and calcitriol production. Rickets may also be caused by kidney disorders involving renal tubular acidosis. The acidic condition of the body causes the calcium in the bones to dissolve, leaving soft, weak bones. Renal osteodystrophy occurs in people with chronic renal failure. The manifestation is virtually identical to that of rickets in children, and that of osteomalacia or osteoporosis in adults.

Occasionally, rickets may be caused in children with disorders of the liver or biliary (liver secretion) system, when fats and vitamin D are inadequately absorbed or when the vitamin D is not converted to its active form. Malabsorption syndromes such as celiac disease and cystic fibrosis can cause vitamin D deficiency.

Premature infants are at risk of developing rickets from calcium and phosphorus deficiency and side effects of their medications (e.g., loop diuretics, corticosteroids).

Other medications associated with the development of rickets include anticonvulsants and antacids. Phenytoin (Dilantin) may cause target organ resistance to calcitriol. Excess oral administration of aluminum-containing antacids can lead to hypophosphatemic rickets caused by the phosphate-binding property of aluminum.

 

Pathophysiology

Rickets results either from a deficiency or abnormal metabolism of vitamin D or from abnormal metabolism or excretion of inorganic phosphate. Histologic changes are seen at the level of the growth plates, or more specifically, at the level of the hypertrophic zone, where an increased number of disorganized cells is found. The increased number of cells results in increased width and thickness of the hypertrophic zone.

To understand the pathophysiology of vitamin D deficiency rickets, knowledge of the biochemistry of vitamin D (cholecalciferol) is essential. What generally is termed vitamin D is actually a prohormone, which requires activation. In the human body, vitamin D can be either exogenous (vitamin D-2 acquired through food supplements) or endogenous (vitamin D-3, resulting from the exposure to sunlight). This activation is obtained by hydroxylation of vitamin D at 2 sites. The first hydroxylation, at the 25 site on the vitamin D molecule, occurs mainly in the liver, although this process also may occur in the kidneys and intestine. This step in the vitamin D pathway is a self-limiting feedback system, which is necessary because 25-hydroxy-vitamin D persists only for several days in the human body, while vitamin D itself can be stored in the liver for months.

The second hydroxylation, at the 1 site on the vitamin D molecule, always takes place in the kidneys; this process is regulated by an enzyme (25-hydroxy-D-1-alfa-hydroxylase). Only after this process does vitamin D becomes active (1,25 dihydroxycholecalciferol). This step in the process is regulated by parathyroid hormone (PTH) a potent inhibitor of 25-hydroxy-D-1α-hydroxylase. When PTH is suppressed, 25-hydroxyvitamin D is converted into the much less potent 24,25 dihydroxyvitamin D. The action of 1,25-dihydroxyvitamin D is 2-fold; first it regulates and enhances absorption of calcium from the intestines. Second, it may stimulate differentiation of stem cells into osteoclasts. Although PTH reduces the output of phosphorus in urine and decreases bone absorption, the potent bone absorbing capacities of 1,25-hydroxy vitamin D leads to a net decrease in bone mass.

 

Vitamin D-deficiency rickets classification

I. Period of disease

•                    starting (initial) (from 2^nd  – 3 d  month of life, lasts from 2 – 3 to 4 – 6 weeks in acute following, subacute to 2 – 3 month),

•                    manifest

•                    reparation or reconvalescention,

•                    permanent changes

II. State (Severity degree)

–         mild – neuromuscular manifestations (autonomous nervous system disorders: excessive sweating, irritability, anxiety, sleep disorders, loss of appetite, also dyspeptic syndrome can be; the severity of autonomic disorders is mild) and disosteogenesis (pliability of the skull bones, areas of softening of the skull bones – kraniotabes, deformation of the skull – asymmetrical flattening of the posterior skull (flat occiput), and little enlarged of osteoid tissue);

–         moderate (intermediate) – in addition to autonomous nervous changes, deformations of  skull, chest and limb are also present: thickening on the joints of  the bone and cartilage ribs edges – “rosary”, softening the edges of ribs “Harison furrow”” chest deformity, enlargement of lower aperture, curvature of the spine – scoliosis, kyphosis, “O” and “X”-like extremities, decreased activity, the presence of moderate changes in the muscular, blood, digestive and cardiovascular systems: moderate enlargement of the liver, spleen, muscular hypotonia, increasing the size of the abdomen, increased laxity in the ligaments, the presence of anemia of II degree, increasing of heart rhythm, breathing;

–         severe – signs are the same, but deeper, there are also delay in physical and neuro-psychological development, organic changes of inner organs.

 

III. Clinical course of disease

1. Acute  – neurological symptoms (expressed changes the autonomic nervous system) and signs of osteomalacia are prevalent.

2. Subacute – symptoms of osteoid hyperplasia are dominant and moderate signs of lesions of other organs and systems are present.

3. Recurrent (relapsing) – alternating periods of exacerbation and periods of his abatement.

 

IV. Clinical variants

1.    Calcium deficiency variant of rickets is characterized by bone deformities caused by osteomalacia, severe high neuromuscular excitability, increased sweating, tachycardia, sleep disorders, the dysfunctions of the digestive system, this type of  rickets is sharper, with a significant decrease in the content of ionized calcium in serum and erythrocytes of venous blood.

2.     Phosphorus deficiency variant of rickets occurs with more pronounced decrease in the content of inorganic phosphorus in serum and red blood cells. He is accompanied with persistent weakness of children, their inhibition, muscular hypotonia, deformities of skeleton caused by osteoid hyperplasia.

3.    Variant of rickets with minor changes in level of calcium and phosphorus in the blood occurs in the lighter form, it has a subacute character, bone deformities are minor, almost no signs lesions of nervous and muscular systems.

 

 

 

Clinical features

Rickets typically presents at 4–18 months of age iutritional vitamin D deficiency and X-linked hypophosphataemic rickets (XLH). Preterm infants develop rachitic changes from 7 weeks of age if their diet is inadequate. The clinical signs of calcium deficiency rickets occur up to 2 years later. Vitamin D deficiency during adolescence usually results in osteomalacia.

 

 

Skeletal effects of vitamin D deficiency

Once the child is walking, bowing of the legs due to tibial and femoral softening occurs. Genu varum with an intercondylar distance of more than 5 cm is suggestive of rickets and is the commonest bony deformity in infants and young children; genu valgum and windswept deformities are more often seen in older cases.

Diffuse bone pain is a feature of both rickets and osteomalacia. Through prolonged mechanical stress on softened vertebrae in severe rickets, kyphoscoliosis may develop in children over the age of 2 years. The anteroposterior diameter of the pelvis can shrink resulting in a «triradiate» or «flat» pelvis.

The costochondral junctions become swollen after 1 year of age, leading to an appearance termed «rickety rosary». The development of Harrison’s groove and pectus carinatum result from muscles pulling on weakened bones. Cartilaginous swellings are also evident in a bracelet conformation around the wrist and the ankles. The main distinction is from normal-sized wrist bones that become more prominent secondary to muscle wasting in malnourished children.

Craniotabes is softening of the skull bones due to failure of intramembranous ossification. It is usually seen in early infancy, and may occur before 2 months age iutritionally deficient preterm babies. Although present in rickets, it is not pathognomonic of this disorder. Expansion of the cranial vault relative to the facial skeleton causes frontal bossing. This clinical appearance occurs in both rickets and hydrocephalus and has been given the term «rickets hydrocephalus».

 

 

 

Other associated cranial problems include delayed closure of the anterior fontanelle and benign intracranial hypertension. Craniosynostosis may be seen in X-linked hypophosphataemic rickets.

Fibrous-cystic osteitis (brown tumour) secondary to hyperparathyroidism may be present, but is extremely rare. On radiography, it appears as single or multiple radiolucencies within the bone.

 

 

Clinical findings are related to the involved skeletal site.

1.                Head

o         Skull: Craniotabes may occur, in which the bones of the skull soften, and flattening of the posterior skull can be seen. These effects may be transient or permanent. Another feature is the prominence of the frontal bones and the major foramen, resulting in frontal bossing or a prominent, sometimes square, forehead (caput quadratum).

 

 

o         Teeth: Teeth may erupt later thaormal because of undermineralization. Enamel can be of poor quality, resulting in caries.

2.                Thorax

 

o         Rachitic rosary: The enlarged ends of the ribs, resembling beads, can be palpable and visible at the costochondral junction. As a result, the sternum can become more prominent, leading to a pigeon breast or pectus carinatum appearance.

 

 

 

 

 

o        

 

o        

 

o        

 

o        

 

 

 

 

 

o         Harrison groove: The groove is a semicoronal impression over the abdomen at the level of the insertion of the diaphragm, which can be seen in rickets.

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

3.                Spine: A mild–to–more pronounced scoliosis may be seen as a result of rickets.

 

 

 

 

 

4.                Pelvis: A prominent promontory can be found, and the anteroposterior (AP) diameter of the pelvis can shrink as a result of scoliosis. If this persists in girls, it can cause complications later in life during childbirth.

5.                Extremities

o         Arms

§     Bowing of the long bones, as a reaction to greenstick fractures, results from concurrent osteomalacia.

§     Thickening of the wrist at the level of the epiphysis is not visible radiographically, since the lesion consists of cartilage, although fraying and cupping of the metaphysis is evident.

o         Legs

§     Bowing of the long bones (genu varum) is typical due to weight bearing.

§     Anterior bowing of the tibia (saber shin deformity) may occur.

§     Development of knock-knees (genu valgum) may occur due to displacement of the growth plates during active disease.

§     Thickening at the level of the ankle may occur, identical to the process in the wrist.

 

 

 

 

 

6.                 Ligaments and muscles: Laxity in the ligaments is increased and muscle tone is decreased. This combination leads to a delay in motor development.

 

Dental features

Dental features of rickets include enamel hypoplasia and delayed tooth  ruption due to failure of tooth «mineralisation». These are more pronounced in hereditary forms of rickets and may present as a feature of maternal vitamin D–deficiency. Root abscesses are a particular problem in X-linked hypophosphataemic rickets.

 

Non-skeletal effects of vitamin D deficiency

Hypocalcaemic seizures occur typically in infants under 6 months, usually before radiological features are apparent. Tetany, apnoea and stridor are also seen in these cases.

Reduced serum calcium levels may affect left ventricular contraction producing left ventricular hypertrophy and dilatation or, in extreme cases, dilated or hypertrophic cardiomyopathy.

Cardiac pathology resolves once treatment is instigated.

Hypocalcaemia can result in prolongation of the QTc interval, arrhythmias, hypotension and heart failure. Cardiac changes are usually confined to early infancy.

Children may also present with muscle weakness secondary to proximal myopathy or carpopedal spasm as an early manifestation of tetany secondary to hypocalcaemia.

Rickets may also be associated with myelofibrosis with associated anaemia or, in the most severe cases, pancytopenia. This complication is rare.

 

laboratory and instrumental Methods of examination

1.    Required laboratory:

–          Complete blood count (hemoglobin level decreasing)

–          Biochemical blood analyses (reduction of total calcium, inorganic phosphorus, increased activity of alkaline phosphatase in serum);

–         Urine calcium excretion (increased level)

      Normal values ​​for children under 3 years old:

      – the level of total serum calcium – 2,25-2,5 mmol/l,

      – the level of inorganic phosphorus in serum 1,45-2,1 mmol/l,

      – alkaline phosphatase 140-220 units. – for children up to 3 years.

      Sulkovych test (output of calcium in the urine)

      – Negative (-)

      – Weakly positive (+)

      – Positive (+ +)

      – Strongly positive (+ + +)

2.    Additional laboratory methods:

–          Hormones: increased parathyroid hormone, calcitonin and reducing content transport form of vitamin D3 (25-OH D3) in serum,

–         pH of blood – acidosis;

–         level of citric acid in blood (less than 62 mmol/l);

–         Urine phosphorus and  aminoacids excretion (increased level).

3.     Instrumental methods

      – X-ray examination of the bones of extremities, chest.

The earliest radiological sign is the loss of demarcation between the growth plate and the metaphysis. This progresses until the classical radiological features of rickets (metaphyseal cupping, fraying and splaying) best seen at the wrists, knees or

ankles) are evident. The widening of the space between the epiphysis and the metaphysis is due to expansion of the layer of hypertrophic chondrocytes in the growth plate. As healing begins, a thin white line of calcification appears at the junction of the growth plate and the metaphyseal area that becomes denser and thicker as calcification proceeds. Unmineralised osteoid causes the periosteum to appear separated from the diaphysis. Osteomalacia appears on radiography as generalised osteopenia with visible coarsening of trabeculae due to secondary hyperparathyroidism.

 

 

Main principles of rickets prevention and treatment

Nutritional rickets is treated by replacing the deficient nutrient. Mothers who breastfeed exclusively need to be informed of the recommendation to give their infants vitamin D supplements beginning in the first two months of life to prevent nutritional rickets.

Vitamin D-dependent rickets, type I is treated with vitamin D; management of type II is more challenging. Familial hypophosphatemic rickets is treated with phosphorus and vitamin D, whereas hereditary hypophosphatemic rickets with hypercalciuria is treated with phosphorus alone. Families with inherited rickets may seek genetic counseling. The aim of early diagnosis and treatment is to resolve biochemical derangements and prevent complications such as severe deformities that may require surgical intervention.

 

Prevention

Rickets may be avoided by maintaining an adequate intake of calcium, phosphorous, and vitamin D. This may require dietary supplements in people with associated gastrointestinal or other disorders.

Renal causes of vitamin D should be treated promptly. Levels of calcium and phosphorous should be monitored regularly in people with renal disorders.

Peculiarities of antenatal prevention

1.                Pregnant woman should be enough on the fresh air, also she should be active.

2.                There should be a diet including Ca:P (2:1), with enough vitamins, microelement content , with right interrelation of proteins, fats, carbohydrates (milk, dairy products);

3.                Prevention and treatment of diseases, prevention of miscarriage.

4.                Specific prevention during last 2 months:

·                    Common ultraviolet irradiation (UVI) – 10 – 15 times, starting from ¼ of biodose to 2,5 – 3 biodoses.

OR

·                    vitamin D 500 IU per day.

 

Peculiarities of postnatal prevention

1.                Because rickets is a result of a metabolic disturbance, the underlying disease should be diagnosed. Try to avoid etiological reasons effect (irrational feeding on main ingredients, vitamins and mineral substances; hypodynamia, hypokinesia; prematurity , metabolic acidosis; the lack of endogenous or exogenous vitamin D) by introduction of :

·        balanced diet ( breast feeding, opportune correction);

·        regimen ( being on fresh air, air bath in summer);

·        massage and gymnastics for 30 – 40 min a day;

·        prevention and treatment of intercurrent  diseases.

2.                Children, who are on breast feeding:

·        2-week – course of polyvitamins at the 1^st and at the 2^nd half-year of life.

·        Calcium preparation (calcium glycerophosphate, 5 -10 % solution CaCl) dose: 0 – 6 months 400 mg per day, 6 months – 10 years 800 mg per day, 10 – 15 years 1200 mg per day.

·        Citrated mixture (Citric acid 2, 1 Natrii citrici 3, 5 Aquae distillate ad 100, 0) 1tea spoon 3 times a day (for better Ca absorption, to reduce acidosis, for better ossification).

2 courses of  UVI (autumn – winter) for 10 – 15 sessions ( after UVI – vitamin D is not prescribed for 2 months).

Vitamin D is prescribed to full-term children from 4 weeks to 3 years (500 IU) and to low-birth-weight from 10 days to 3 years(500 IU)

Preventive prescription of vitamin D3 for young children and pregnant women

 

 

In summer there is an interval.

Children, who are artificially fed (if they receive adapted feeding formulas) and children, who live in southern countries don’t need the vitamin prevention.

 Attention! Don’t use ultraviolet irradiation and vitamin D simultaneous or 2 its preparations!

 

Treatment

The treatment goals are the relief of symptoms and the correction of the cause. The replacement of deficient calcium, phosphorous, and/or vitamin D causes symptoms to disappear. There may be a need to use the biologically active form of vitamin D in people who have vitamin D-resistant rickets or who have difficulty converting vitamin D to its active form. Dietary sources of vitamin D include fish, liver, and processed milk. Exposure to moderate amounts of sunlight is encouraged. The underlying cause must be treated to prevent recurrence. Maintaining good posture helps to correct skeletal deformities. Positioning or bracing may be used to reduce or prevent deformities. A surgical correction of some skeletal deformities may be necessary.

To remove etiological agent it is useful to set up corresponding diet, to reduce hypodynamia (massage every day for 30 – 40 min); to provide regimen care (salt and conifer bath – counterbalance nerve system, improve metabolic process). Important is to cure the disease, which caused acidosis.

 

Specific medication treatment:

·                   UVI ( ultraviolet irradiation) – is recommended to use during initial period, while subacute following.  Is NOT RECOMMENDED to use in case of acute following, if signs of spasmophilia, dyspepsia, tuberculosis contamination, hypotrophy, anemia are presents.

·                   Vitamin D.

The treatment dosage of vitamin D is depended from the severity of rickets:

–         Mild – daily dosage – 2000 IU;

–         Moderate – 4000 IU;

–         Severe – 5000 IU.

The time of admission of vitamin D is 30-45 days. Later up to 3 years of life (2 – 3 courses per year (30 days course with dose of vitamin D 2000 IU), intervals between them must  be not less than 3 months

·       Calcium preparation (calcium glycerophosphate, 5 -10 % sol. CaCl) dose: 0 – 6 months 400 mg per day, 6 months – 10 years 800 mg per day, 10 – 15 years 1200 mg per day.

·                   Vitamins C, B1, B2, B6, E   in age dosage 2 – 3 weeks (to reduce acidosis ), citrated mixture, methionine, АТP (especially to rickets of I – II degree).

If there is no effect in 4 weeks, it is necessary to conduct differential diagnostics on other diseases. 

 

Sulkovich’s test. This test gives approximate presentation about calcium content in blood from its presence in urine.

«+» is normal level

«++, +++, ++++» hipercalcemia (hipercalcinemia)

Sulkovich’s test is ones in 7 -10 days.

Expectations (prognosis):

The disorder may be corrected with replacement of deficient minerals and vitamin D. Laboratory values and X-rays usually improve after about 1 week, although some cases may be resistant and require large doses of minerals and vitamin D.

If rickets is not corrected while children are still growing, skeletal deformities and short stature may be permanent, but if it is corrected while the child is young skeletal deformities often reduce or disappear with time.

 

Hypervitaminosis D

Etiology

Hypervitaminosis D emerges because of taking a lot of vitamin D2, for rickets treatment and prevention as well. Almost in all cases vitamin D2 dose during all course was >1.000.000 MO. In some cases, while «short-time» prescriptions (2 – 4 weeks) 4000 – 8000 Vitamin 2D, also starts hyperviyaminosis D. The reason is increased vitamin D2 preparation sensibility. Children with chronic kidneys diseases have increased vitamin D2 preparation sensibility.

Pathogenesis

In pathogenesis of hypervitaminosis D play role not only its straight toxic effect on cell membranes – elevation of ATP activity, metabolism – hypercalcemia, hypercalcuria (hypercalcinuria), creation of peroxide connections, phosphorylation inhibition and citric acid conversion, acidosis; but also hypercalcemia afteractions – vessels calcinosis, nephrocalcinosis, calcium savings in myocardium, alveoles, walls of stomach, rarely – in cornea and conjunctivas.

Calcium composition with hypervitaminosis D is >2, 89 mmol/l

 

Children’s Hypervitaminosis D clinical classification (by N. Barlibaeva, V. Strukov).

1.     By severity and clinical presentations degree.

·     Mild – without toxicosis, appetite loss, hyperhidrosis, irritability, sleep disturbance, body’s weight growth retardation, calcium – renal excretion increase, Sulkovich’s test ++++.

·     Moderate toxicosis, appetite loss, vomiting, body’s weight retardation or loss, presentations of hypercalcemia, hypermagnesemia, hipercitratemia, Sulkovich’s test is positive at ones(+++ or ++++).

·     Severe – low-grade toxicosis, unstoppable vomiting, significant body’s weight loss, addition of complications ( pneumonia, pyelonephritis, myocarditis, pancreatitis), changes of biochemical indexes (rates).

2.     By the period.

Initial, swing, reconvalescention, remain effect phenomenon : calcinosis of different organs and vessels, theirs sclerosis with development of coartation of aorta, pulmonary artery stenosis, urolithiasis, CRF.

3.     By the passage.

Sharp – <6 months.

Chronic – > 6 months.

 

Treatment of hypervitaminosis D

1 .To cancels immediately ergocalciferoli.

2. To limit quantity of cow milk (that is rich with calcium) porridges on vegetable decoction is prescribed.

3. To drink more water.

4. To make intravenous introductions of glucose, blood plasma, albumin, haemodes, Ringer’s solution, cocarboxilaze, ascorbic acid.

5. Corticosteroids (prednisolone – 1 Mg/Kg per day with dose gradual decreasing during 8-10 days).

6. Retinol (5 000 – 10 000 IU per day), tocopherol, B – group vitamins. Injections of big retinol doses delays hypervitaminosis development, tocopherol breaks lipid peroxidation and decreases calcification of aorta and kidneys.

7. For more calcium discharge use:

·        Calcitonin (75 -150 IU every day intramuscular introductions)

·        3 % ammonia chloridi solution (1 tea spoon 3 times a day)

·        Trilon B (dinatrium salt ethylene diamine tetraacetate acid ) 50 mg/kg per day 2-3 times a day, sometimes intravenous introductions ( day dose is injected for 3 – 4 hours).

 

 

       Bone is a dynamic organ capable of rapid turnover, weight bearing, and withstanding the stresses of various physical activities. It is constantly being formed (modeling) and re-formed (remodeling). It is the major body reservoir for calcium, phosphorus, and magnesium. Disorders that affect this organ and the process of mineralization are designated metabolic bone diseases.

Because bone growth and turnover rates are high during childhood, many clinical features of metabolic bone diseases are more prominent in children than in adults.

The human skeleton consists of a protein matrix, largely composed of a collagen-containing protein, osteoid, on which is deposited a crystalline mineral phase. Although collagen-containing osteoid accounts for 90% of bone protein, other proteins are present, including osteocalcin, which contains γ– carboxyglutamic acid. Synthesis of osteocalcin is vitamin K and vitamin D dependent; in high bone turnover states, serum osteocalcin values are often elevated.

The microfibrillar matrix of osteoid permits deposition of highly organized calcium phosphate crystals, including hydroxyapatite [C₁₀(PO₄)₆ × 6H₂O] and octacalcium phosphate [Ca₈(H₂PO₄)₆ × 5H₂O], plus less organized amorphous calcium phosphate, calcium carbonate, sodium, magnesium, and citrate. Hydroxyapatite is deep within bone matrix, whereas amorphous calcium phosphate coats the surface of newly formed or remodeled bone.

Bone growth occurs in children by the process of calcification of the cartilage cells present at the ends of bone. In accord with the prevailing extracellular fluid (ECF) calcium and phosphate concentrations, mineral is deposited in those chondrocytes or cartilage cells set to undergo mineralization. The main function of the vitamin D/parathyroid hormone (PTH)/endocrine axis is to maintain the ECF calcium and phosphate concentrations at appropriate levels to permit mineralization.

Other hormones also appear to regulate the growth and mineralization of cartilage, including growth hormone acting through insulin-like growth factors, thyroid hormones, insulin, leptin, and androgens and estrogens during the pubertal growth spurt. Supraphysiologic concentrations of glucocorticoids impair cartilage function and bone growth and augment bone resorption.

Phosphate homeostasis is regulated by the kidneys because intestinal phosphate absorption is nearly complete and renal excretion determines the serum level. Excessive intestinal phosphate absorption causes a fall in serum levels of ionized calcium and a rise in PTH secretion, resulting in phosphaturia, thus lowering the serum phosphate level and permitting the calcium level to rise. Hypophosphatemia blocks PTH secretion and promotes renal 1,25-dihydroxyvitamin D (1,25[OH]₂D) synthesis. This latter compound also promotes greater intestinal phosphate absorption.

Rates of bone formation are coordinated with alterations in mineral metabolism in both the intestine and kidneys. Inadequate dietary intake or intestinal absorption of calcium causes a fall in serum levels of calcium and its ionized fraction. This serves as the signal for PTH synthesis and secretion, resulting in greater bone resorption to raise the serum calcium level, enhanced distal tubular reabsorption of calcium, and higher rates of synthesis by the kidneys of 1,25-dihydroxyvitamin D (1,25[OH]₂D) or calcitriol, the most active metabolite of vitamin D ( Fig. 701-1 ). Calcium homeostasis thus is controlled at the intestine because the availability of 1,25(OH)₂D ultimately determines the fraction of ingested calcium that is absorbed.

The growth pattern of bones is an acceleration of bone growth (length) of the limbs during prepubescence, increased growth (length) of the trunk (spine) during early adolescence, and increased bone mineral deposition in late adolescence. The use of dual-energy x-ray absorptiometry (DEXA) or less often quantitative CT permits measurement of both bone mineral content and bone density in healthy subjects and in children with metabolic bone disease. DEXA scanning exposes the patient to less radiation than a chest radiograph.

An understanding of the metabolism of vitamin D is necessary to appreciate metabolic bone disease and rickets (see Fig. 701-1 ). The skin contains 7-dehydrocholesterol, which is converted to vitamin D₃ by ultraviolet radiation; other inactive vitamin D sterols are also produced (see Chapter 48 ). Vitamin D₃ is then transported in the bloodstream to the liver by a vitamin D–binding protein (DBP); DBP binds all forms of vitamin D. The plasma concentration of free or nonbound vitamin D is much lower than the level of DBP-bound vitamin D metabolites.

Vitamin D also can enter the metabolic pathway by ingestion of dietary vitamin D₂ (ergocalciferol) or vitamin D₃ (cholecalciferol), both of which are absorbed from the intestine because of the action of bile salts. After absorption, ingested vitamin D is transported by chylomicrons to the liver, where, along with skin-derived vitamin D₃, it is converted to 25-hydroxyvitamin D (25[OH]D) by the action of a hepatic microsomal enzyme requiring oxygen, NADPH, and magnesium to hydroxylate vitamin D at the 25th carbon atom. The 25(OH)D is next transported by DBP to the kidneys, where it undergoes further metabolism. 25(OH)D is the main circulating vitamin D metabolite in humans ( Table 701-1 ). Because the synthesis of 25(OH)D is weakly regulated by feedback, its plasma level rises in summer and falls in winter. High vitamin D intake raises the plasma level of 25(OH)D to many times above normal, but the parent vitamin D compound itself is absorbed by adipose tissue.

In the kidneys, 25(OH)D undergoes further hydroxylation, depending on the prevailing serum concentration of calcium, phosphate, and PTH. If the calcium or phosphate level is reduced or the PTH level is elevated, the enzyme 25(OH)D-1-hydroxylase is activated and 1,25(OH)₂D is formed. This metabolite circulates at a level that is only 0.1% of the level of 25(OH)D (see Table 701-1 ) and acts on the intestine to increase the active transport of calcium and stimulate phosphate absorption. Because 1α-hydroxylase is a mitochondrial enzyme that is tightly feedback regulated, the synthesis of 1,25(OH)₂D declines after serum calcium or phosphate values return to normal. Excessive 1,25(OH)₂D is converted to an inactive metabolite. In the presence of normal or elevated serum calcium or phosphate concentrations, the renal 25(OH)D-24-hydroxylase is activated, producing 24,25-dihydroxyvitamin D (24,25[OH]₂D), which is a pathway for the removal of excess vitamin D; serum levels of 24,25(OH)₂D (1–5 ng/mL) increase after ingestion of large amounts of vitamin D. Although hypervitaminosis D and production of inactive metabolites can occur after oral dosing (see Chapter 48 ), extensive skin exposure to sunlight does not usually produce toxic levels of 25(OH)D₃, suggesting natural regulation of the production of this metabolite in cutaneous tissue.

Serum 1,25(OH)₂D levels are higher in children than in adults, are not as subject to seasonal variability, and peak in the 1st yr of life and again during the adolescent growth spurt. These values must be interpreted in light of the prevailing serum calcium, phosphate, and PTH values and with regard to the entire vitamin D metabolite profile.

Mineral deficiency prevents the normal process of bone mineral deposition. If mineral deficiency occurs at the growth plate, growth slows and bone age is retarded, a condition called rickets. Poor mineralization of trabecular bone resulting in a greater proportion of unmineralized osteoid is the condition of osteomalacia. Rickets is found only in growing children before fusion of the epiphyses, whereas osteomalacia is present at all ages. All patients with rickets have osteomalacia, but not all patients with osteomalacia have rickets. These conditions should not be confused with osteoporosis, a condition of equal loss of bone volume and mineral.

Rickets may be classified as calcium-deficient or phosphate-deficient rickets. Because both calcium and phosphate ions constitute bone mineral, the insufficiency of either type in the ECF that bathes the mineralizing surface of bone results in rickets and osteomalacia. The two types of rickets are distinguishable by their clinical manifestations ( Table 701-2 ). Rickets may also occur in the face of mineral deficiency, despite adequate vitamin D stores. True dietary calcium deficiency rickets is found in some parts of Africa but rarely in North America or Europe. A form of phosphate-deficiency rickets may occur in infants given prolonged administrations of phosphate-sequestering aluminum salts as a treatment for colic or gastroesophageal reflux. This results in the phosphate depletion syndrome.

     The two main forms are vitamin D₃ (cholecalciferol) and vitamin D₂ (ergocalciferol) (see Fig. 1). These are transported to the liver and metabolised to 25-hydroxyvitamin D₃ and 25-hydroxyvitamin D₂ which are the major circulating forms of vitamin D and are measured in most assays. A second hydroxylation takes place in the kidney to form 1,25-dihydroxyvitamin D₃, also known as calcitriol, and 1,25-dihydroxyvitamin D₂. These are the activated forms of vitamin D and have three main functions:

• enhancing absorption of calcium and phosphate from the small intestine

• inhibiting parathyroid hormone synthesis and secretion

• mineralising the bone matrix.3

Impaired renal function results in reduced production of 1,25-dihydroxyvitamin D, whereas hepatic function, even if it is severely impaired, does not seem to have a major effect on vitamin D metabolism.

Fig. 1 Vitamin D metabolism 7-dehydrocholesterol skin Dietary vitamin D (minor source): Vitamin D3 – cholecalciferol is present in some fish and meat Vitamin D2 – ergocalciferol is a vegetable-derived form of vitamin D, previously the main form of supplementation 2 cholecalciferol Vitamin D3 (major source) is formed in the skin after exposure to sunlight liver 25-hydroxyvitamin D kidney   1,25-dihydroxyvitamin D Calcium balance is maintained by parathyroid hormone and 1,25-dihydroxyvitamin D. Together they co-regulate: • gut calcium absorption • renal calcium reabsorption • bone formation and breakdown

Sources of vitamin D

The main source of vitamin D comes from exposure of the skin to sunlight. Hence there is considerable seasonal variation with concentrations higher at the end of summer compared to other seasons. Vitamin D₃ is found in fatty fish such as herring, salmon and mackerel. Other sources include eggs, meat and fortified foods such as margarine (Fig 1). For most Australians, adequate vitamin D is unlikely to be achieved through dietary sources alone without fortification.4

Controversies regarding sun exposure

Guidelines on sun exposure must be tempered by the high prevalence of skin cancers in this country. Much controversy has surrounded the topic of how much sunshine is enough and how much is too much. It is a subject where there has often been a lack of consensus among medical specialists themselves and this problem is further compounded in transferring this message to the public.5

Recommending sun exposure

Recommended exposure of 5–15 minutes of sunlight 4–6 times a week outside the hours of 10 am–2 pm seems prudent (Table 1).1 Certainly, avoidance of the most dangerous ultraviolet exposure in the middle of the day is appropriate, especially in summer, with responsible use of ultraviolet blocking agents. Guidelines on exposure to sunshine need to be tailored to the individual − one size does not fit all. Many factors need to be considered including geographical location such as latitude, season, time of day, skin colour, age and particularly clothing.

Dermatologists have expressed concern about relaxation of sun protection messages, which have played a large role in the media campaigns to reduce the incidence of skin cancers. Important caveats include some knowledge by the public of the ultraviolet index* – concentrations above 3 require sun protection. People who are at the highest risk of skin cancers, such as those who are immunosuppressed, should take even more stringent precautions in the sun.5 On the other hand, people with darker skin can require 3–4 times more sun to achieve the same vitamin D synthesis.3

Table Recommendations of sun exposure for adequate vitamin D synthesis on exposed arms and legs (outside the hours of 10 am–2 pm) † Region Duration (minutes)   Summer Winter   Cairns 6–7 9–12 Townsville 5–7 9–13 Brisbane 6–7 15–19 Sydney 6–8 26–28 Melbourne 6–8 32–52 Adelaide 5–7 25–38 Perth 5–6 20–28 Hobart 7–9 40–47

 

 

 

TABLE  — Vitamin D Metabolic Values in Plasma of Normal Healthy Subjects

METABOLITE	PLASMA VALUE
Vitamin D2	1–2 ng/mL
Vitamin D3	1–2 ng/mL
25(OH)D2	4–10 ng/mL
25(OH)D3	12–40 ng/mL
Total 25(OH)D	15–50 ng/mL
24, 25(OH)2D	1–4 ng/mL
1, 25(OH)2D
Infancy	70–100 pg/mL
Childhood	30–50 pg/mL
Adolescence	40–80 pg/mL
Adulthood	20–35 pg/mL

 

 

TABLE   — Clinical Variants of Rickets and Related Conditions

TYPE		SERUM CALCIUM LEVEL	SERUM PHOSPHORUS LEVEL	ALKALINE PHOSPHATASE ACTIVITY	URINE CONCENTRATION OF AMINO ACIDS	GENETICS	GENE DEFECT KNOWN
I.	Calcium deficiency with secondary hyperparathyroidism (deficiency of vitamin D;low 25(OH)D and no stimulation of higher 1, 25(OH)2D values)
	1. Lack of vitamin D
	a. Lack of exposure to sunlight	N or L	L	E	E
	b. Dietary deficiency of vitamin D	N or L	L	E	E
	c. Congenital	N or L	L	E	E
	2. Malabsorption of vitamin D	N or L	L	E	E
	3. Hepatic disease	N or L	L	E	E
	4. Anticonvulsive drugs	N or L	L	E	E
	5. Renal osteodystrophy	N or L	E	E	V
	6. Vitamin D–dependent type I	L	N or L	E	E	AR	Y
II.	Primary phosphate deficiency (no secondary hyperparathyroidism)
	1. Genetic primary hypophosphatemia	N	L	E	N	XD, AD	Y
	2. Fanconi syndrome
	a. Cystinosis	N	L	E	E	AR	Y
	b. Tyrosinosis	N	L	E	E	AR	Y
	c. Lowe syndrome	N	L	E	E	XR	Y
	d. Acquired	N	L	E	E
	3. Renal tubular acidosis, type II proximal	N	L	E	N		Y
	4. Oncogenic hypophosphatemia	N	L	E	N		Y
	5. Phosphate deficiency or malabsorption
	a. Parenteral hyperalimentation	N	L	E	N
	b. Low phosphate intake	N	L	E	N
III.	End-organ resistance to 1, 25(OH)2D3
	1. Vitamin D–dependent type II (several variants)	L	L or N	E	E	AR	Y
IV.	Related conditions resembling rickets
	1. Hypophosphatasia	N	N	L	Phosphoethanolamine elevated	AR	Y
	2. Metaphyseal dysostosis
	a. Jansen type	E	N	E	N	AD	Y
	b. Schmid type	N	N	N	N	AD	Y

 

 

Growth of the cartilage and the bone

Growth of the skeleton follows a genetically programmed developmental plan that furnishes not only the best indicator of general growth progress, but also provides the best estimate of biologic age. Some degree of assessment can be achieved by observation of facial bone development (nasal bridge height, prominence of malar eminences, and mandibular size), but the most accurate measure of general development is the determination of osseous maturation by roentgenography. Skeletal age appears to correlate more closely with other measures of physiologic maturity (such as the onset of menarche) than with chronologic age or height. This “bone age” is determined by comparing the mineralization of ossification centers and advancing bony form to age-related standards. Skeletal maturation begins with the appearance of centers of ossification in the embryo and ends when the last epiphysis is firmly fused to the shaft of its bone.

In the healthy child skeletal growth and development consist of two concurrent processes: (1) the creation of new cells and tissues (growth), and (2) the consolidation of these tissues into a permanent form (maturation). Early in fetal life embryonic connective tissues begin to differentiate and become more closely packed to form cartilage. This cartilage is enlarged by cell division and expansion within the forming structures and by the laying down of successive layers on the surface of the mass. During the second month of fetal life, bone formation begins when calcium salts are deposited in the intercellular substance (matrix) to form calcified cartilage first and then true bone. There are some differences in this bone formation. In small bones, the bone continues to form in the center and cartilage continues to be laid down on the surfaces. Bones of the face and cranium are laid out in a tough membrane and directly ossified into bone during fetal life.

In long bones the ossification takes place in two centers. It begins in the diaphysis (the long central portion of the bone) from a “primary” center and continues in the epiphysis (the end portions of the bone) at “secondary” centers of ossification. Situated between the diaphysis and the epiphysis is an epiphyseal cartilage plate that is united to the diaphysis by columns of spongy tissue, the metaphysis (Fig. 7). It is at this site that active growth in length takes place, and interference with this growth site by trauma or infection can result in deformity. Under the influence of hormones, primarily pituitary growth hormone and thyroid hormone, bones increase in circumference by the formation of a new bone tissue beneath the membrane that surrounds the bone (periosteum) and in length by proliferation of the cartilage.

 

 

 

Over the growth period of approximately 19 to 20 years, this development can be divided into three distinct but over-phases: (1) ossification of the diaphysis, (2) ossification of the epiphysis, and (3) invasion and subsequent replacement of growth cartilage plates with bony fusion of epiphysis and diaphysis. These changes do not take place in all bones simultaneously but appear in a specific order and at a specific time. Although the speed of bone growth and amount of maturity at specific ages vary from one child to another, the order of ossification is constant. The first center of ossification appears in the 2-month-old embryo, and at birth the number is approximately 400, about half the number at maturity. New centers appear at regular intervals during the growth period and provide the basis for assessment of “bone age.” Postnatally, the earliest centers to appear (at 5 to 6 months of age) are those of the capitate and hamate bones in the wrist. Therefore, roentgenograms of the hand and wrist provide the most useful areas for screening to determine skeletal age, especially before age 6 years. A common rule of thumb is: age in years + 1 = number of ossification centers in the wrist. These centers appear earlier in girls than in boys.

Skeletal development advances until maturity through the growth of ossification centers and the lengthening of long bones at the metaphysis and cartilage plates. Linear growth can continue as long as the epiphysis is separated from the diaphysis by the cartilage plate; when the cartilage disappears, the epiphysis unites with the diaphysis and growth ceases. Epiphyseal fusion also follows an orderly sequence, thus the timing of epiphyseal closure furnishes another medium for measuring the skeletal age.

Investigation and assessment based on bone growth furnish a reliable index of growth rate in the individual child. In addition to the assessment of the general developmental and nutritional status of the child, the findings are of value in the diagnosis of many metabolic and endocrine disturbances affecting growth as well as some congenital conditions.

 

Dentition

 

The course of dentition is sometimes divided into four major stages: (1) growth, (2) calcification, (3) eruption, and (4) attrition. The primary teeth arise as outgrowths of the oral epithelium during the sixth week of embryonic life and begin to calcify during the fourth to sixth months. Tooth buds form at 10 different points in each arch and eventually become the enamel organs for the 20 primary (deciduous) teeth. All the buds are present at birth, but the amount of enamel laid down varies with each set of teeth. Hard tissue formation generally occurs between 4 and 6 months of fetal life.

Teeth are divided into quadrants of the lower mandible and upper maxilla and are named for their location in each quadrant of the dental arch, such as central incisor, lateral incisor, and first and second molars. Teeth are also named after their specific function in the mastication of food. The central and lateral incisors, which have a knifelike, or scissorlike shape, cut the food. The cuspids, also called canines, tear the food. The term cuspid refers to the single point or cusp shape of the crown. The two premolars, or bicuspids because of their two-pointed crown, crush the food. The permanent molars, which have four or five cusps, grind the food.

About the middle of the first year the primary teeth begin to erupt, although calcification is not completed until sometime during the third year. The age of tooth eruption shows considerable variation among all children, but the order of their appearance is fairly regular and predictable (Fig. A and B). The first primary teeth to erupt are the lower central incisors, which appear at approximately 6 to 8 months of age. This may vary from 4 months to 1 year iormal children, and infants may even be born with teeth. One incisor erupts, followed closely by the homologous incisor. The total of 20 primary teeth is acquired in characteristic sequence by 30 months of age. Calcification of the primary teeth is complete at this time. A quick guide to assessment of deciduous teeth during the first 2 years is: the age of the child in months – 6 = number of teeth that should be present.

The first permanent (secondary) teeth erupt at about 6 years of age. Before their appearance they have been developing in the jaw beneath the deciduous (primary) teeth. Meanwhile, the roots of the latter are gradually being absorbed so that at the time a deciduous tooth is shed, only the crown remains. At 6 years of age all the primary teeth are present and those of the secondary dentition are relatively well formed. At this time eruption of the permanent teeth begins, usually starting with the 6-year molar, which erupts posterior to the deciduous molars. The others appear in approximately the same order as eruption of the primary teeth and follow shedding of the deciduous teeth. The pattern of shedding primary teeth and the eruption of secondary teeth are subject to wide variation among children. To allow the larger permanent teeth to occupy the limited space left by shed primary teeth, a series of complicated changes must take place in the jaws. It is at this time that many of the difficulties created by crowding of teeth become apparent. With the appearance of the second permanent (12-year) molar, most of the permanent teeth are present. The third permanent molars, or wisdom teeth, may erupt from 18 to 25 years of age or later. A quick guide to assessment of permanent teeth is: the age of the child in years x 4 – 20 = number of teeth that should be present.

 

 

 

 

 

 

 

       Permanent dentition, as in other aspects of development, is somewhat more advanced in girls than it is in boys. The eruption of teeth is sometimes used as a criterion for developmental assessment, especially the 6-year molar, which seems to be the most universally consistent in timing. However, dental maturation does not correlate well with bone age and is less reliable as an index of biologic age. Retarded eruption is more common than accelerated eruption and may be caused by heredity or may indicate health problems such as endocrine disturbance, nutritional factors, or malposition of teeth.

 

Growth of the muscle

As skeletal development is responsible for linear growth, muscle growth accounts for a significant portion of the increase in body weight. The number of muscle fibers is established by the fourth or fifth month of fetal life and remains constant throughout life. Differences in muscle size between individuals and differences in one person at various times during a lifetime are the result of the ability of the separate muscle fibers to increase in size. The increase in muscle fiber length that accompanies growth is also associated with an increase in the number of nuclei in the fibers. This increase is most apparent during the adolescent growth spurt. At this time the increase in secretion of growth hormone and adrenal androgens stimulates the growth of muscle fibers in both sexes, but the growth in boys is further stimulated by the secretion of testosterone. At about 6 months of prenatal life, muscle mass constitutes approximately one sixth of the body weight; at birth, about one fourth, and at adolescence, one third. The variability in size and strength of muscle is influenced by genetic constitution, nutrition, and exercise. At all ages muscles increase in size with use and shrink with inactivity. Consequently maintaining muscle tone to minimize the amount of atrophy in skeletal muscle through active or passive range of motion exercises is an important protective nursing function.

 

 

Peculiarity of musculoskeletal the system iewborn

 

At birth the skeletal system contains larger amounts of cartilage than ossified bone, although the process of ossifi­cation is fairly rapid during the first year. The nose, for example, is predominantly cartilage at birth and is fre­quently flattened by the force of delivery. The six skull bones are relatively soft and not yet joined. The sinuses are incompletely formed in the newborn as well.

Unlike the skeletal system, the muscular system is almost completely formed at birth. Growth in the size of muscular tissue is caused by hypertrophy, rather than hyperplasia of cells.

 

Physiologicoanatomical peculiarities of the chest

 

Although the thoracic cavity houses two vital organs, the heart and lungs, the anatomic structures of the chest wall are important sources of the information concerning cardiac and pulmonary function, skeletal formation. The chest is inspected for size, shape, symmetry, movement and the presence of the bony landmarks formed by the ribs and sternum.

The doctor must become familiar with locating and properly numbering each rib, because they are geographic landmarks for palpating, percussing, and auscultating underlying organs. Normally all the ribs can be counted by palpating inferiorily from the second rib. The tip of the eleventh rib can be felt laterally, and the tip of the twelfth rib can be felt posteriorily. Other helpful landmarks include the nipples, which are usually located between the fourth and fifth ribs or at the fourth interspace and, posteriorly, the tip of the scapula, which is located at the level of the eighth rib or interspace. In children with thin chest walls, correctly locating the ribs presents little difficulty.

The thoracic cavity is also divided into segments by drawing imaginary lines on the chest and back: the anterior, lateral, and posterior divisions. The doctor should become familiar with each imaginary landmark, as well as with the rib number and corresponding interspace.

The size of the chest is measured by placing the tape around the rib cage at the nipple line. For the greatest accuracy at least two measurements should be taken, one during inspiration and the other during expiration, and the average recorded. The chest size is important mainly in comparison to its relationship with the head circumference. Marked disproportions are always recorded, because most are caused by abnormal head growth, although some may be the result of altered chest shape, such as barrel chest or pigeon chest.

As the child grows, the chest normally increases in the transverse direction, causing the anteroposterior diameter to be less than the lateral diameter. In an older child the characteristic barrel shape of an infant’s chest is a significant sign of chronic obstructive lung disease, such as asthma or cystic fibrosis. Other variations in shape that are usually variants of the normal configuration are pigeon breast, or pectus carinatum, in which the sternum protrudes outward, increasing the anteroposterior diameter, and funnel chest, or pectus excavatum, in which the lower portion of the sternum is depressed. A severe depression may impair cardiac function, but in general neither condition causes pathologic dysfunction. However, these conditions often cause parents and children concern regarding acceptable physical appearance.

The doctor also notes the angle made by the lower costal margin and the sternum, which ordinarily is about 45 degrees. A larger angle is characteristic of lung diseases that also cause a barrel shape of the chest. A smaller angle may be a sign of malnutrition. As the rib cage is inspected, the junction of the ribs to the costal cartilage (costochondral junction) and sternum is noted. Normally the points of attachment are fairly smooth. Swellings or blunt knobs along either side of the sternum are known as the rachitic rosary and may indicate vitamin D deficiency. Another variation in shape that may either be normal or may suggest rickets (vitamin D deficiency) is Harrison’s groove, which appears as a depression or horizontal groove where the diaphragm leaves the chest wall. Usually marked flaring of the rib cage below the groove is an abnormal finding.

Body symmetry is always an important notation during inspection. Asymmetry in the chest may indicate serious underlying problems, such as cardiac enlargement (bulging on the left side of rib cage) or pulmonary dysfunction. However, asymmetry is most often a sign of scoliosis, lateral curvature of the spine. Asymmetry warrants further medical investigation.

Movement of the chest wall is noted. It should be symmetric bilaterally and coordinated with breathing. During inspiration the chest rises and expands, the diaphragm descends, and the costal angle increases. During expiration the chest falls and decreases in size, the diaphragm rises, and the costal angle narrows. In children under 6 or 7 years of age, respiratory movement is principally abdominal or diaphragmatic. In older children, particularly females, respirations are chiefly thoracic. In either type the chest and abdomen should rise and fall together.

Any asymmetry of movement is an important pathologic sign and is reported. Decreased movement on one side of the chest may indicate pneumonia, pneumothorax, atelectasis, or an obstructive foreign body. Marked retraction of muscles either between the ribs (intercostal), above the sternum (suprasternal), or above the clavicles (supraclavicular) is always noted, because it is a sign of respiratory difficulty.

         Peculiarity of the chest iewborn The newborn’s chest is almost circular because the anteroposterior and lateral diameters are equal. The ribs are very flexible, and slight intercostal retractions are normally seen on inspiration. The xiphoid process is commonly visible as a small protrusion at the end of the sternum. The sternum is generally raised and slightly curved.

 

Physiologicoanatomical peculiarities of the head in the newborn

 

General observation of the contour of the head is important, since molding occurs in almost all vaginal deliveries. In a vertex delivery the head is usually flattened at the forehead, with the apex rising and forming a point at the end of the parietal bones and the posterior skull or occiput dropping abruptly. The usual more oval contour of the head is apparent by 1 to 2 days after birth. The change in shape occurs because the bones of the cranium are not fused, allowing for overlapping of the edges of these bones to accommodate to the size of the birth canal during delivery. Such molding does not occur in infants born by cesarean section.

Six bones – the frontal, occipital, two parietals, and two temporals – comprise the cranium. Between the junctions of these bones are bands of connective tissue called sutures. At the junction of the sutures are wider spaces of unossified membranous tissue called fontanels. The two most prominent fontanels in infants are the anterior fontanel formed by the junction of the sagittal, coronal, and frontal sutures, and the posterior fontanel, formed by the junction of the sagittal and lambdoidal sutures (Fig. 7.3). One can easily remember the location of the sutures because the coronal suture “crowns” the head and the sagittal suture “separates” the head.

Two other fontanels – the sphenoidal and mastoid – are normally present but are not usually palpable. An additional fontanel located between the anterior and posterior fontanels along the sagittal suture is found in some normal neonates but is also found in some infants with Down’s syndrome.

The presence of this sagittal or parietal fontanel is always recorded.

The doctor palpates the skull for all patent sutures and fontanels, noting size, shape, molding, or abnormal closure. The sutures are felt as cracks between the skull bones, and the fontanels are felt as wider “soft spots” at the junction of the sutures. These are palpated by using the tip of the index finger and running it along the ends of the bones.

 

 

The fontanel of great size is assessed between middle points of the opposite sides of the fontanel (between the frontal and parietal bones).

The anterior fontanel is diamond-shaped, measuring 2.5 cm (1 inch) by 3 cm (about 1.5 inches). The posterior fontanel is triangular-shaped, measuring between 0.5 and 1 cm (less than l/2 inch) at its widest part. It is easily located by following the sagittal suture toward the occiput.

The fontanels should feel flat, firm, and well-demarcated against the bony edges of the skull. Frequently pulsations are visible at the anterior fontanel. Coughing, crying, or lying down may temporarily cause the fontanels to bulge and become more taut. However, a widened, tense, bulging fontanel is a sign of increased intracranial pressure. A markedly sunken, depressed fontanel is an indication of dehydration. Such findings are recorded and reported to the physician.

The doctor also palpates the skull for any unusual masses or prominences, particularly those resulting from birth trauma, such as caput succedaneum or cephalhematoma. Because of the pliability of the skull, exerting pressure at the margin of the parietal and occipital bones along the lambdoid suture may produce a snapping sensation similar to the identation of a Ping-Pong ball. This phenomenon is known as physiologic craniotabes and, although usually a normal finding, can be indicative of hydrocephalus, syphilis and ricket.

The degree of the head control in the neonate is also assessed. Although the head lag is normal in the newborn, the degree of the ability to control the head in certain positions should be recognized. If the supine infant is pulled from the arms into a semi-Fowler’s position, a marked head lag and hyperextension are noted. However, as one continues to bring the infant forward into a sitting position, the infant attempts to control the head in an upright position. As the head falls forward onto the chest, many infants attempt to right it into the erect position. If the infant is held in ventral suspension, that is, held prone above and parallel to the examining surface, the infant holds his head in a straight line with the spinal column. When lying on the abdomen, the newborn has the ability to lift the head slightly, turning it from side to side. A marked head lag is seen in Down’s syndrome, hypoxic infants, and newborns with brain damage.

 

 

Rickets is a disorder involving softening and weakening of the bones (of children) primarily caused by lack of Vitamin D, or lack of calcium or phosphate. It is a general disease of the children’s organism characterised by deep damage of all types of metabolism, especially mineral metabolism, damaging of different organs and systems, inadequate or delayed mineralisation of bones and an excess of osteoid.

 

Etiology: A lack of vitamin D may arise because of

) Insufficient endogenous synthesis;

2) A primary deficiency state due to a dietary lack of the nutrient;

3) Secondary deficiency caused by malapsorption of the lipid-soluble vitamin D (diseases of pancreas, billiard tract, intestinal diseases).

 

 

Pathogenesis:

A deficiency of vitamin D induces not only abnormal serum levels of calcium and phosphate, but also secondary hyperparathyroidism and skeletal morphologic changers. It is now clear that vitamin D itself is not active in calcium metabolism. It must first conversion to its active metabolite, 1-Alfa-, 25 – dihydroxyvitamin D3 which is essence constitutes a hormone since it is formed in the kidney and acts on distant target organs.

If there is a deficiency of Vitamin D, the body is unable to properly regulate calcium and phosphate levels.

When the blood levels of these minerals become too low, it results in destruction of the support matrix of the bones.

 

Pathogenesis:

•         In the vitamin D deficiency state, hypocalciemia develops, which stimulates excess parathyroid hormone, which stimulates renal phosphorus loss, further reducing deposition of calcium in the bone.

 

•          The parathyroid gland may increase its functioning rate to compensate for decreased levels of calcium in the bloodstream.

To increase the level of calcium in the blood the hormone destroys the calcium present in the bones of the body and this results in further loss of calcium and phosphorous from the bones.

•         Early in the course of rickets, the calcium concentration in the serum decreases.

 

•         After the parathyroid response, the calcium concentration usually returns to the reference range, though phosphorus levels remain low.

 

•          Alkaline phosphatase, which is produced by overactive osteoblast cells, leaks to the extracellular fluids so that its concentration rises to anywhere from moderate elevation to very high levels.

 

Clinical Symptoms

·        Bone pain or tenderness (arms, legs, spine, pelvis)

·        Increased tendency toward bone fractures

·        Fever, especially at night

Restlessness, especially at night weakness

·        Decreased muscle tone (loss of muscle strength)

·        Decreased muscle development

·        Muscle cramps

·        Impaired growth (short stature and slow growth)

Skeletal deformities:

·        Bow legs

·        Forward projection of the breastbone (pigeon chest)

·        “Bumps” in the rib cage (rachitic rosary)

·        Asymmetrical or odd-shaped skull

·        Spine deformities (spine curves abnormally, including scoliosis or kyphosis)

·        Pelvic deformities

 

                   Extremities:

a)     bowing of the arms and legs;

b)    knock-knee (X-shaped legs);

c)     saber shins;

d)    instability of hip joints;

e)     pelvic deformity;

f)      enlargement of epiphysis at the ends of the long bones.

                           

varus deformity (X-shaped legs)                            valgus deformity(X-shaped legs)

 

 

Dental deformities:

·        Delayed formation of teeth

·        Defects in the structure of teeth, holes in the enamel

·        Painful teeth, aching aggravated by sweets, or by cold/hot food or drinks

·        Increased incidence of cavities in the teeth (dental caries)

Diagnostic signs and tests

·        Serum calcium and serum phosphorus may be low.

·        Serum alkaline phosphatase may be high.

·        Arterial blood gases may reveal metabolic acidosis.

Classification of the rickets

( by Lukyanova O.M., 1991)

Classical Rickets or acquired, congenital, caused by vit D deficiency	Vitamin -D-dependent rickets or pseudodeficiency	Vitaminresistent rickets	Secondary rickets
Levels of severity :I- mild; II –moderate, III- severe Disease Course character: acute, subacute, reccurent Disease variant: 1- with serum calcium decreasing. 2- with serum phospro decreasing. 3 – without any calcium and phosphor changes	Type I – genetic defect of kidney synthesis of 1,25(OH)2 D Type II – genetic resistance of organ receptors for  1,25(OH)2 D	Family congenital hypophosphatemic rickets or phosphat-diabet De-Toni-Debre-Phankoni disease Kidney tubular acidosis Hypophosphatasia	In case of kidney and liver diseases and biliary ducts obstruction In case of malabsorbtion syndrome In case methabolic disoders diseases Long-term treatment with anticonvulsant medications, such as phenytoin, can stimulate liver enzymes that break down and inactivate calcitriol.

 

TREATMENT

1 STAGE

VITAMINE D – “VIDEIN – 3”

2000 IU 1 TIME\DAY 30 DAYS

2  STAGE

VITAMINE D – “VIDEIN – 3”

3500 IU 1 TIME\DAY 40 DAYS

3 STAGE

VITAMINE D – “VIDEIN – 3”

5000 IU 1 TIME\DAY 45 DAYS

THEN PROFILACTIC DOSE – 500 IU TILL THE END OF THE SECOND YEAR OF LIFE

 

 

 

SPECIFIC POSTNATAL PROFILACTIC

 

HEALHU BABY –

500 IU TILL THE END OF THE SECOND YEAR OF LIFE

PREMATURE BABY – FROM THE 10-14 DAYS OF LIFE

 

1 STAGE OF PREMATURING

 

VITAMINE D – “VIDEIN – 3”

500 IU 1 TIME\DAY 6 MONTHS

 

2  STAGE OF PREMATURING

 

VITAMINE D – “VIDEIN – 3”

1000 IU 1 TIME\DAY 6 MONTHS

 

3 STAGE OF PREMATURING

VITAMINE D – “VIDEIN – 3”

2000 IU 1 TIME\DAY 6 MONTHS

 

THEN PROFILACTIC DOSE – 2000 IU DURING 30 DAYS 2-3 TIME \YEAR WITH INTERVALES 3-4 MONTHS TILL 3-D YEAR OF LIFEAYTILL THE END OF THE SECOND YEAR OF LIFE

 

SPASMOPHILIA

Spasmophilia (children’s tetany) – disease, in the basis of which disturbances of mineral metabolism (decrease of concentration of ionized calcium in a blood) lies. It is characterized heightened nervous-muscle exiting and predilection to tonic and clonic cramps of separate groups of muscles, in particular larynxes, legs and arms. The spasmophilia sometimes shows by rare, but most dangerous form- eklampsia. Such condition very dangerous, as during cramps can be an apnoea or stopping of heartbeating. Therefore knowledge of clinic, treatment, preventive maintenance of  spasmophilia are very important, in particular, by granting of first help.

Etiology:

 hypovitaminosis D, hypoparathyreoidism.

Pathogenesis:

decrease of Ca, increase of an alkaline reserve of a blood and K with P.

Clinical picture:

 

Disposition to the cramps children of the 4-18-24 months with the richets.

 The latent form: sign Еrba, Hvostek, Trussо, Maslov.

 

 

 

 

а) By a sign Hvostek  — during a mild percussion on a cheek by the finger in a segment between cheek-bone  arc and corner of a mouth are reduced mimic muscles of the conforming party;

b) By a sign Trussо — during tightening a shoulder nerve ( by the cuff  for measurement of arterial pressure) paintbrush through 3-5 minets gains a position of «obstetrical hand”;

 

 

 

c) By a sign Maslov — the deposition of a mild nyxis in a skin of the child with a spasmophilia predetermines an apnoea at the altitude of inhalation, for the healthy child such boring predetermines acceleration and recess of breathing;

d) Sign Еrba — a boring of a mediaerve in a ulnar crimp by a galvanic current call reduction in case of current intensity, smaller than 5 mа (in the norm — .more  than 5 mа).

The manifestative form: laryngospasm,  spastic stricture of arms and legs, eklampsia.

Laboratory symptoms:  decrease of a level of calcium and magnesium; decrease of Ca, increase of an alkaline reserve of a blood and K with P.

Treatment

I. First aid.

1.     At a laryngospasm to create the dominant locus of excitation in a brain (to clap on cheeks, to wash by cold water, to click the radical of tongue).

2.     At cramps – Seduxenum (0,5 % solution, 0,1 mg/kg), and simultaneously to enter a gluconate of calcium (10 % solution, 0,5-1,0 ml / kg).

       ІІ. 1.    Correction of a feed (limitation of the cow milk, increase of a quota of vegetables and fruit).

2.  Compensation of an acidosis (5-10 % of ammonium chloride on 1 tea spoon 5-6 times per day.

3.  Drugs of calcium (10 % solution of calcium of a gluconate at the rate of 50-55 mgг/кг/day; 1 ml of solution contains 36 mg of calcium).

4.  After normalization of a level of calcium in a blood – treatment by vitamin D3 (2000-5000 МО 30-45 days depending on a degree of gravity of a rickets).

Vitamins A, Е, B for age doses.