Klinik: 

Definition: Das idiopathische nephrotische Syndrom ist eine autosomal rezessive Erkrankung, die durch Mutationen des Podocin-Gens hervorgerufen wird.

Literatur: 

Boute N et al. (2000) NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome.
Huber TB et al. (2003) Molecular basis of the functional podocin-nephrin complex: mutations in the NPHS2 gene disrupt nephrin targeting to lipid raft microdomains.
Koziell A et al. (2002) Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration.