Dr. med. Dirk Manski



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Congenital Nephrotic Syndrome

Definition

The congenital nephrotic syndrome (Finnish type) is a recessive inherited kidney disease, which 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, the children suffer from a severe loss of protein 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. Placental weight is greatly increased. 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 are to control urinary protein loss: good nutrition, albumin infusion, for severe proteinuria unilateral or bilateral nephrectomy is sometimes necessary (Dufek et al, 2017). Edema are treated with diuretic medication. End-stage renal disease requires dialysis and kidney transplantation.









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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