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Congenital Nephrotic Syndrome

Definition

Congenital nephrotic syndrome is a rare nephrotic syndrome with onset in utero or within the first 3 months of life. It is characterized by massive proteinuria, hypoalbuminemia, edema, often hyperlipidemia, and rapid progression to chronic kidney disease (Caridi et al., 2010).

Epidemiology:

1:100,000; in Finland 1:10,000.

Etiology:

It is caused by mutations in various genes, including NPHS1, NPHS2, or WT1, which lead to a defect of the glomerular filtration barrier. Dilated proximal tubules gave rise to the historical term “microcystic kidney disease.”

Clinical presentation

After birth, massive protein losses lead to hypovolemia, failure to thrive, susceptibility to infections, a tendency toward thrombosis, and progressive glomerulosclerosis with end-stage kidney disease over time. The course is variable and depends largely on the underlying genetic cause.

Diagnosis:

Markedly elevated AFP in the amniotic fluid and maternal serum, and increased placental weight. Early genetic testing clarifies the cause and avoids unnecessary unsuccessful trials of immunosuppressive therapy. Kidney biopsy is indicated only in unclear cases.

Treatment of congenital nephrotic syndrome:

Corticosteroids or immunosuppression are ineffective in congenital nephrotic syndrome. Treatment goals are control of protein loss: high-calorie nutrition, albumin infusions, ACE inhibitors, indomethacin, and diuretics. dialysis and kidney transplantation are indicated in end-stage kidney disease. In severe proteinuria, unilateral or bilateral nephrectomy is sometimes necessary (Dufek et al., 2017).

References

Caridi, G.; Trivelli, A.; Sanna-Cherchi, S.; Perfumo, F. & Ghiggeri, G. M. Familial forms of nephrotic syndrome.
Pediatr Nephrol, 2010, 25, 241-252

  Deutsche Version: Kongenitales nephrotisches Syndrom

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