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Congenital Nephrotic Syndrome

Definition

Congenital nephrotic syndrome (Finnish type) is a recessive inherited kidney disease that affects children with severe proteinuria and later with end-stage renal disease (Caridi et al., 2010).

Epidemiology:

0,5–1:100.000, in Finnland 1:10.000

Etiology:

The congenital nephrotic syndrome is caused by mutations of different gene locations (among other NPHS1, NPHS2, or WT1). At the time of birth, a greatly enlarged placenta is present, and the children suffer from severe protein loss through proteinuria. Later, end-stage renal disease develops due to glomerulosclerosis. Dilated proximal tubules led to the old name "microcystic renal disease".

Diagnosis:

Greatly increased AFP in the amniotic fluid and placental weight. Genetic diagnosis is possible. Kidney biopsy in unclear cases.

Treatment of congenital nephrotic syndrome:

Corticosteroids or immunosuppression are not helpful in congenital nephrotic syndrome. Treatment goals include good nutrition and albumin infusion to substitute urinary protein loss. Sometimes unilateral or bilateral nephrectomy is necessary for severe proteinuria (Dufek et al., 2017). Edema are treated with diuretic medication. End-stage renal disease requires dialysis and kidney transplantation.

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