MeSH Browser

MeSH Supplementary: Nephrosis, congenital
Unique ID: C535761
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C535761
Entry Term(s): Congenital nephrotic syndrome 1; Congenital nephrotic syndrome, Finnish type; Finnish congenital nephrosis; Nephrosis 1, congenital, Finnish type; Nephrotic Syndrome, Early-Onset, Type 3; Nephrotic Syndrome, Idiopathic; Nephrotic Syndrome, Type 1; Nephrotic Syndrome, Type 2; Nephrotic Syndrome, Type 3; Nphs3
Registry Numbers: 0
Heading Mapped to: *Nephrotic Syndrome
Frequency: 286
Note: A congenital nephrotic syndrome; patients present with PROTEINURIA; HYPOALBUMINEMIA; HYPERLIPIDEMIA, and EDEMA. Biopsies show nonspecific histologic changes such as MINIMAL CHANGE GLOMERULOPATHY; FOCAL SEGMENTAL GLOMERULOSCLEROSIS (FSGS), and diffuse mesangial proliferation. Nephrotic syndrome type 1 (OMIM: 256300) presents with prenatal onset of massive proteinuria followed by severe steroid-resistant nephrotic syndrome at birth with rapid progression to CHRONIC KIDNEY FAILURE. Germline mutations have been identified in the NPHS1 gene for type 1; NPHS2 gene for type 2 (OMIM: 600995); and the PLCE1 gene for type 3 (OMIM: 610725).
Date of Entry: 2010/08/25
Revision Date: 2015/08/18

Nephrosis, congenital MeSH Supplementary Concept Data 2025