Congenital nephrotic syndrome type 02
Idiopathic nephrotic syndrome is an autosomal recessive disease caused by mutations of the podocin gene.
Glucocorticoids can better be avoided in patients with genetically confirmed steroid resistant nephrotic syndrome. Afters transplantation, recurrence of FSGS is rare, so the patients are best treated by kidney transplant.
Koziell A et al. (2002) Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration.[^]
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.[^]
Orphanet articleOrphanet ID 357502 [^]
OMIM.ORG articleOmim 600995 [^]
Wikipedia articleWikipedia EN (Nephrotic_syndrome) [^]