Dr. med. Dirk Manski

 You are here: Urology Textbook > Kidneys > Congenital nephrotic syndrome

Congenital Nephrotic Syndrome


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).


0,5–1:100.000, in Finnland 1:10.000


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".


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.

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