Steroid-resistant nephrotic syndrome 600995
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Clinical feature:
Definition: Idiopathic nephrotic syndrome is an autosomal recessive disease caused by mutations of the podocin gene.
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Literature:
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.