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Nephrotic syndrome, idiopathic, steroid-resistant MeSH Supplementary Concept Data 2025
An autosomal recessive disorder characterized by childhood onset of PROTEINURIA; HYPOALBUMINEMIA; HYPERLIPIDEMIA; and EDEMA. Kidney biopsies show nonspecific histologic changes such as minimal change, FOCAL SEGMENTAL GLOMERULOSCLEROSIS (FSGS), and diffuse mesangial proliferation. The disorder is resistant to steroid treatment and progresses to END-STAGE RENAL FAILURE in the first or second decades. Germline mutations in the PDCN (NPHS2) gene have been identified. OMIM: 600995