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steroid-resistance nephrotic syndrome
Pathology: - focal segmental glomerulosclerosis is present at later stages Genetics: 1) autosomal recessive 2) mutation in podocin gene Clinical manifestations: 1) onset between 3 months & 5 years 2) resistance to steroid therap 3) rapid progression to end-stage renal diseaseRelated
podocin (NPHS2)General
nephrotic syndrome genetic syndrome (multisystem disorder)Database Correlations
OMIM 600995References
- OMIM :accession 608629