Dr. med. Dirk Manski

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Congenital Nephrotic Syndrome


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




The congenital nephrotic syndrome is caused by mutation of the NPHS1 gene (see nephronophthisis). 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".


Greatly increased AFP in the amniotic fluid. Placental weight is greatly increased. Genetic diagnosis is possible. Kidney biopsy.

Treatment of congenital nephrotic syndrome:

Familiar forms of the nephrotic syndrome are resistant to corticosteroids and require later on dialysis and/or renal transplantation.

Index: 1–9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z


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