Diagnosis of rickets

Diagnosis of rickets

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

Anamnesis

• Indication of unfavorable course of the antenatal period of development.
• Prematurity.
• High mass-growth rates at birth and the rate of their increase.
• Birth in the autumn-winter period.
• Twins.
• Early improper artificial or mixed feeding.
• Qualitative inferiority of nutrition.
• Data on poor 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 nervous system damage.
• Change in emotional status:
  • fearfulness;
  • wincing;
  • capriciousness.
• Vegetative disorders:
  • excessive sweating;
  • red dermographism;
  • secretory and dyskinetic disorders of the digestive tract.
  • lag of psychomotor development.
• Symptoms of damage to the bone system:
  • Manifestations of osteomalacia (predominate in acute disease):
    • compliance of the edges of the large fontanel, bones forming the seams;
    • flattening of the occiput;
    • craniotabes;
    • softening and pliability of the ribs (formation of the Harrison furrow, widening of the lower aperture of the chest, deformation of the chest - "chicken breast");
    • "Shoemaker's breast";
    • O- or X-shaped curvature of the legs;
    • flat pelvis;
    • "Olympic" forehead.
  • Manifestations of osteoid hyperplasia (predominate in the subacute course of the disease):
    • formation of frontal and parietal tubercles;
    • the formation of rib beads;
    • bloating metaphysis of the tubular bones of the forearms ("bracelets");
    • thickening on phalanges of fingers ("strands of pearls").
  • Symptoms of bone tissue hypoplasia (broken osteogenesis):
    • late closure of fontanelles and sutures;
    • violation of teething (term, order);
    • lag in the growth of tubular bones in length (delay of the stator functions);
    • discrepancy of passport age biological (violation of terms of ossification).
• Manifestations of muscle hypotension.
  • A symptom of a folding knife.
  • Flabby shoulders.
  • Functional kyphosis in the lumbar region.
  • "Froggy belly."
  • Delayed motor development.
  • General motor retardation.
  • Lethargy.
• The defeat of other organ systems.
  • Cardiovascular.
  • Respiratory system.
  • GIT.
  • Infringement of a hemopoiesis, etc.

Laboratory research

General blood analysis

Hypochromic anemia, rarely - severe anemia of Yaksha-Gayema.

Biochemical blood test:

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

With active rickets, it is noted:

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

X-ray examination

During the heat period, they reveal:

• defeat of trabecular bones, especially in epiphyseal zones;
• fuzzy contours and ruffled ends of the zones of preliminary calcification;
• saucer-like expansion of metaphyses;
• the appearance of zones of adjustment (the zone of enlightenment of Loozera) in places of high load;
• disappearance of ossification nuclei in the epiphyses due to loss of bone structure;
• sometimes - fractures of the "green twig" type.

During the period of convalescence, 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 dependence on vitamin D, there are mutations of the gene (the 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 the receptors l, 25- ( OH) ^2- D ³ in target cells, especially in enterocytes, which leads to a decrease in their sensitivity to the metabolite.

Clinically, the picture of dependent rickets resembles a severe form of deficiency, however, biochemical changes are dominated by hypocalcemia, often manifested by tetany. The disease manifests usually after a 3-month-old child, but hypocalcemia can be identified soon after birth. Heterozygotes, according to mutated genes, tend to be hypocalcemia, although they are phenotypically 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 kidney tubules. From the term it is clear that this rickets badly gives in to treatment with vitamin D, even its active metabolites.

In various forms of this form, it is always possible, but in varying degrees of severity, to reveal signs of tubular damage, from isolated phosphaturia in phosphate-diabetes to a combined disturbance of reabsorption of electrolytes, water (polyuria and polydipsia), amino acids, glucose (amino- and glucosuria), and disorders of acid-base regulation (acidosis). A constant sign is a marked delay in physical development.

These diseases, unlike the considered forms, manifest later - from 1 year to 3 years, although biochemical changes can be detected soon after the birth of the child. In connection with the relatively late onset of rickets, the signs of lower extremity lesions prevail in the clinic. If the disease manifests itself before the age of 1.5 years, then the O-shaped form of the legs is marked, if later - the X-shaped.

Congenital fragility of bones, or imperfect osteogenesis (osteogenesis imperfecta)

The disease is characterized by a triad of symptoms:

• fragility of bones (fractures cause minimal effects, their low soreness is characteristic, so they may not be noticed by parents);
• blue sclera;
• Hearing loss (due to the wrong structure of the labyrinth capsule).

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

When X-ray examination reveals places of fractures, osteo-porosity, clear boundaries of bone growth zones. The main biochemical indicators are normal.

Chondrodystrophy

Congenital disease, caused by the absence of a zone of growth of cartilage.

Patients have a characteristic appearance since birth: short, not corresponding to the length of the trunk of the limb, large, with a protruding forehead and a head, neck, short neck. Hands in the form of a trident. The skin on the limbs forms large folds. They note a large belly, a lordotic curvature of posture.

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

There are no deviations of biochemical parameters,

Hypothyroidism

It is based on complete or partial thyroid.

Characterized by the appearance of patients: the face is round, a large tongue is often stuck out of the mouth, drooling. Skin is dry, pale, "marble". Pastyozhnost subcutaneous tissue ("slimy edema"). The abdomen is large, there is a significant lag in the psychomotor development.

On the radiographs, there are clear areas of bone growth, delayed appearance of ossification points.

Decreased concentration of T ₃ and T ₄ in serum.

Record changes in thyroid tissue with ultrasound.

Hereditary rickets-like diseases

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

Ricket-like diseases are tubulopathies, in which the transport of various substances is disrupted as a result of damage to the kidney tubules.

The disruption of reabsorption of forfor and bicarbonates in the tubules leads to hypophosphatemia, hyperchloremic metabolic acidosis. Chronic metabolic acidosis promotes demineralization of bones and hypercalciuria, which leads to changes in bone tissue.

[1], [2], [3], [4], [5], [6], [7], [8],