Congenital nephrotic syndrome

Congenital nephrotic syndrome (CNS) refers to nephrotic syndrome onset within 3 months of birth, with the same clinical features as childhood nephrotic syndrome: massive proteinuria, severe edema, hyperlipidemia and hypoproteinemia at birth or within 3 months, usually divided into hereditary and non-hereditary.

Common Symptoms

Convulsions; glomerulosclerosis; Yue Han; venous thrombosis; diffuse mesangial sclerosis; nephrotic syndrome; renal failure; corneal opacity; proteinuria; hermaphroditism

Causes

(1) Etiology. Finnish and non-Finnish types are autosomal recessive, the gene on the long arm of chromosome 19, so children of consanguineous couples have high incidence; Drash syndrome often has secondary factors. (2) Mechanism. Finnish CNS is autosomal recessive; the defect causes heparan sulfate metabolism disorder, loss of anionic charge barrier in the GBM and massive proteinuria. In 1966 Norio surveyed 57 Finnish families, locating the gene at 19q13.1; in 1983 Vernier found reduced anionic sites; in 1998 Karl Tryggrason reported nephrin abnormality (NPHS1 mutation). Pathologically early glomeruli may be normal or focally sclerotic; late shows tuft collapse, diffuse sclerosis, tubular dilation and fibrosis; proximal tubular microcystic dilation (microcystic disease) may be acquired from persistent proteinuria.

Treatment

Medication, rehabilitation therapy

Prevention

Give prophylactic and supportive treatment, strengthen health education, prenatal care and antenatal checks to prevent early renal failure.

Recommended Department

It is recommended to visit the nephrology department; before the visit you may first book an appointment and connect with experts through this platform.

Warm reminder: The above information is provided for health education reference only and cannot replace professional medical diagnosis. If you have related symptoms, please seek care at a regular hospital in time.