Diagnosis of rickets

Diagnosis of rickets

• Anamnesis (risk factors).
• Clinical data.
• Laboratory data.
• Radiographic data.

Anamnesis

• Indication of an unfavorable course of the antenatal period of development.
• Prematurity.
• High weight and height indicators at birth and the rate of their increase.
• Birth in the autumn-winter period.
• Twins.
• Early incorrect artificial or mixed feeding.
• Qualitative nutritional deficiency.
• Data on poor material and living conditions.
• Treatment with anticonvulsants.
• Lack of specific prevention of rickets.

Symptoms of Rickets

The severity of symptoms depends on the period, severity and nature of the course of the disease.

• Symptoms of damage to the nervous system.
• Change in emotional status:
  • timidity;
  • tremors;
  • capriciousness.
• Vegetative disorders:
  • excessive sweating;
  • red dermographism;
  • secretory and dyskinetic disorders of the gastrointestinal tract.
  • psychomotor developmental delay.
• Symptoms of damage to the skeletal system:
  • Manifestations of osteomalacia (predominant in the acute course of the disease):
    • pliability of the edges of the large fontanelle, bones that form the sutures;
    • flattening of the back of the head;
    • craniotabes;
    • softening and pliability of the ribs (formation of Harrison's groove, widening of the lower aperture of the thoracic cage, deformation of the rib cage - "chicken breast");
    • "shoemaker's chest";
    • O- or X-shaped curvature of the shins;
    • flat pelvis;
    • "Olympic" forehead.
  • Manifestations of osteoid hyperplasia (predominant in the subacute course of the disease):
    • formation of frontal and parietal tubercles;
    • formation of costal "rosary";
    • swelling of the metaphyses of the tubular bones of the forearms ("bracelets");
    • thickening of the phalanges of the fingers ("string of pearls").
  • Symptoms of bone tissue hypoplasia (impaired osteogenesis):
    • late closure of fontanelles and sutures;
    • disruption of teething (timing, order);
    • delayed growth of tubular bones in length (delayed statomotor functions);
    • discrepancy between passport age and biological age (violation of ossification time).
• Manifestations of muscle hypotonia.
  • Jackknife symptom.
  • Flabby shoulders.
  • Functional kyphosis in the lumbar region.
  • "Frog belly".
  • Delayed motor development.
  • General motor retardation.
  • Lethargy.
• Damage to other organ systems.
  • Cardiovascular.
  • Respiratory system.
  • Gastrointestinal tract.
  • Hematopoiesis disorders, etc.

Laboratory research

Complete blood count

Hypochromic anemia, rarely - severe Yaksha-Gayem anemia.

Biochemical blood test:

• dysproteinemia (hypoalbuminemia, hyper-a1- and a2-globulinemia);
• hypoglycemia;
• phase changes in calcium and phosphorus concentrations;
• increased alkaline phosphatase activity;
• acidosis.

In active rickets the following is noted:

• reduction of phosphorus content in blood plasma to 0.6-0.8 mmol/l;
• reduction of calcium content in blood plasma (total - up to 2 mmol/l and ionized - up to 1 mmol/l);
• increased concentration of alkaline phosphatase in blood serum;
• decrease in calcidiol (25-OH-D ₃ ) below 40 ng/ml;
• decrease in calcitriol [l,25-(OH) ₂ -D3 below 10-15 pg/ml;
• hyperaminoaciduria more than 10 mg/kg;
• hyperphosphaturia up to 0.5-1 ml with a norm of 0.1-0.25 ml;
• compensated metabolic acidosis with base deficit up to 5-10 mmol/l;
• increased activity of lipid peroxidation.

X-ray examination

During the peak period, the following are identified:

• damage to trabecular bones, especially in the epiphyseal areas;
• unclear contours and frayed ends of the preliminary calcification zones;
• saucer-shaped expansion of the metaphyses;
• the appearance of restructuring zones (Looser's enlightenment zones) in areas of high load;
• disappearance of ossification centers in the epiphyses due to loss of bone structure;
• sometimes - “green stick” type fractures.

During the recovery period, ossification bands appear in the bone growth zone, the number of which corresponds to the number of exacerbations.

Differential diagnostics

Vitamin D-dependent rickets. This group includes two diseases with autosomal recessive inheritance. In the first type of vitamin D dependence, there are mutations in the gene (12th pair of chromosomes) responsible for the synthesis of 1a-hydroxylase in the kidneys, resulting in a deficiency of the active metabolite D. In the second type, the gene responsible for the synthesis of l,25-(OH) ² -D ³ receptors in target cells, primarily in enterocytes, is mutated, which leads to a decrease in their sensitivity to the metabolite.

Clinically, the picture of dependent rickets resembles a severe form of deficiency rickets, but hypocalcemia prevails in biochemical changes, often manifested by tetany. The disease usually manifests itself after 3 months of age of the child, but hypocalcemia can be detected soon after birth. Heterozygotes, according to mutated genes, show a tendency to hypocalcemia, although phenotypically they are always healthy. The second type of dependent rickets, unlike the first, is often combined with alopecia.

Vitamin D-resistant rickets is a group of diseases caused by damage to the renal tubules. The term makes it clear that this rickets is poorly treatable with vitamin D, even its active metabolites.

In various variants of this form, signs of tubular damage can always be detected, but to varying degrees of severity - from isolated phosphaturia in phosphate diabetes to combined disturbances in the reabsorption of electrolytes, water (polyuria and polydipsia), amino acids, glucose (amino- and glucosuria), as well as disturbances in acid-base regulation (acidosis). A constant symptom is a pronounced delay in physical development.

These diseases, unlike the forms considered, manifest later - from 1 year to 3 years, although biochemical shifts can be detected soon after the birth of the child. Due to the relatively late onset of rickets, the clinical signs of damage to the lower extremities prevail. If the disease manifests before 1.5 years of age, then O-shaped legs are noted, if later - X-shaped.

Congenital brittle bones, or osteogenesis imperfecta

The disease is characterized by a triad of symptoms:

• bone fragility (fractures cause minimal impact and are characterized by little pain, as a result of which they may not be noticed by parents);
• blue sclera;
• hearing loss (due to abnormal structure of the labyrinth capsule).

In addition, patients often notice a bluish border on their teeth.

X-ray examination reveals fracture sites, osteoporosis, and clear boundaries of bone growth zones. Basic biochemical parameters are normal.

Chondrodystrophy

A congenital disease caused by the absence of a zone of cartilage growth.

Patients have a characteristic appearance from birth: short limbs that do not correspond to the length of the body, a large head with a protruding forehead and a sunken bridge of the nose, a short neck. Hands in the form of a trident. The skin on the limbs forms large folds. A large belly and lordotic curvature of the posture are noted.

X-ray examination reveals thickening of the cortical layer of the bone with clear boundaries of growth zones.

There are no deviations in biochemical parameters,

Hypothyroidism

It is based on complete or partial thyroid dysfunction.

The appearance of patients is characteristic: round face, large tongue often sticking out of the mouth, salivation. Skin is dry, pale, "marbled". Pastosity of subcutaneous tissue ("mucous edema"). The abdomen is large, there is a significant delay in psychomotor development.

Radiographs reveal clear zones of bone growth and a delayed appearance of ossification points.

_{A decrease in the concentrations of T3} and T4 _in the blood serum is noted.

Changes in thyroid tissue are recorded using ultrasound.

Hereditary rickets-like diseases

There is a group of rickets-like diseases in which there are bone deformities similar to rickets (De Toni-Debre-Fanconi disease, renal tubular acidosis, vitamin D-resistant rickets).

Rickets-like diseases are tubulopathies in which the transport of various substances is impaired as a result of damage to the renal tubules.

Impaired tubular reabsorption of phosphorus and bicarbonates leads to hypophosphatemia and hyperchloremic metabolic acidosis. Chronic metabolic acidosis contributes to bone demineralization and hypercalciuria, which leads to changes in bone tissue.

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