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 end-stage renal disease (Caridi et al, 2010).

Epidemiology:

0,5–1:100000

Etiology:

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".

Diagnosis:

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



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