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Nephrosis, congenital MeSH Supplementary Concept Data 2024

MeSH Supplementary
Nephrosis, congenital
Unique ID
RDF Unique Identifier
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
Registry Number
Heading Mapped to
*Nephrotic Syndrome
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
Revision Date
Nephrosis, congenital Preferred
Nephrotic Syndrome, Type 2 Narrower
Nephrotic Syndrome, Type 3 Narrower
Nephrotic Syndrome, Type 1 Narrower
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