Hereditary Jade.

Hereditary nephritis

The etiology and pathogenesis of the disease are not fully understood. It is assumed that the cause is mutations in genes that control the synthesis of structural proteins in kidney tissue and other organs. There are two types of hereditary nephritis - Alport syndrome and hematuric nephritis. A more severe course is observed in men, which indicates the possibility of a dominant type of inheritance, partially linked to sex.

Clinical manifestations. In the hematuric variant, an asymptomatic course is observed at the beginning; hematuria is discovered by chance. Edema and hypertension appear with the development of renal failure in adolescence or adulthood. Characterized by erythrocyturia of varying severity, moderate proteinuria, and sometimes transient leukocyturia. Renal dysfunction is absent for a long time.

Alport syndrome affects the kidneys, organs of vision and hearing. Hearing loss is often detected late, making early diagnosis difficult. Many patients exhibit anatomical abnormalities of the urinary system and external stigmata of dysembryogenesis.

Diagnosis is based on identifying the main symptoms, analyzing the pedigree, and examining relatives. In severe forms, a kidney biopsy is performed. The histological picture shows focal segmental glomerulitis, tubular dystrophy, interstitial fibrosis.

Treatment is difficult due to the unclear pathogenesis. Prescribe a diet, sanitation of foci of infection, vitamin therapy, ATP. Glucocorticoids are not indicated. With the development of chronic renal failure, dialysis and kidney transplantation are performed.

Forecast. Chronic renal failure develops by 20-25 years with the hematuric variant and by 12-16 years with Alport syndrome. Prevention has not been developed.