Hereditary nephritis

Hereditary nephritis. Etiology, pathogenesis have not been studied. It is assumed that the disease is associated with a mutation of a gene that controls the synthesis of structural proteins of the kidney tissue, as well as other organs. There are two variants of hereditary nephritis - Alport syndrome and hematuric nephritis. The more severe course of the disease is observed in males, which indicates the possibility of inheritance by a dominant type, partially linked to the sex.

Clinical picture. The hematological variant begins imperceptibly, the urinary syndrome is detected accidentally. Edema and hypertension are absent, but appear with the development of renal failure, usually in adolescence or in adults. Urinary syndrome is characterized by erythrocyturia of varying degrees - from a slight increase in the number of red blood cells to macrohematuria. Detect also moderate proteinuria and in some children - transient leukocyturia. Bacteriuria, as a rule, does not happen. Biochemical blood test does not reveal pronounced shifts, in some children there may be blurred disproteinemia and hyperlipidemia. The partial functions of the kidneys remain intact for a long period, sometimes hyperaminoaciduria of the overload or renal type is detected. More severe manifestations characterize Alport syndrome, in which there is a combination of damage to the kidneys, eyes and hearing loss. Due to the fact that hearing loss develops in the late stages of the disease, early differentiation of Alport syndrome can be difficult. Hearing damage is caused by damage to the auditory nerve or cochlear apparatus, and in some patients it is detected only with audiometric examination. Most children with hereditary nephritis have stigmata of dysembryogenesis in the form of anatomical abnormalities in the structure of the urinary system, as well as external stigma (hypertelorism, anomalies in the structure of the auricles, fingers and toes).

For severe forms of hereditary nephritis, a progressive course characterized by the gradual development of chronic renal failure is characteristic. The diagnosis is based on the identification of the main signs of the disease, the analysis of the pedigree of the child, the examination of the next of kin. The presence of multiple stigmas of connective-tissue dysembryogenesis also indicates the likelihood of hereditary nephritis. In severe forms, a kidney biopsy and a histological examination of the kidney tissue are indicated.

Morphological changes in the renal tissue are characterized by the presence of focal segmental proliferative glomerulitis, proximal epithelium dystrophy and distal tubular atrophy, interstitial cellular infiltration and fibrosis with the presence of "foam cells". Electron microscopy reveals the thinning of the glomerular basement membrane.

Differential diagnosis is carried out with diffuse glomerulonephritis, urolithiasis, pyelonephritis, tubulopathies.

Treatment is a difficult task due to the lack of clear knowledge of the pathogenesis of the disease. In the complex of therapeutic measures there are common elements for inflammatory diseases of the kidneys: the proper organization of the sleep and wakefulness of the child, the sanation of foci of chronic infection, the exclusion of acute and extractive substances from food. Antibiotics are prescribed only for intercurrent diseases. For the purpose of inhibition of sclerotic changes, preparations of the 4-aminoquiline series (a resoiching dose of 5-10 mg / kg, a duration of treatment of at least 6 months) may be prescribed. Glucocorticoids are not shown. Satisfactory results were obtained from vitamin therapy (pyridoxine, cocarboxylase), the use of ATP (1 ml IM in a day, 10-15 injections).

It is important to identify early signs of chronic kidney failure in order to begin treatment with the dialysis program - transplantation. To do this, periodically determine the content of creatinine in the blood plasma, to study the equilibrium of acids and bases.

Forecast. CRF with a hematuric variant of hereditary nephritis appears at the age of 20-25 years, with Alport syndrome - at 12-16 years (more often in boys).

Prophylaxis of hereditary nephritis has not been developed.