Nephrosis, congenital [Supplementary Concept]
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 introduced: August 25, 2010
MeSH Unique ID: C535761
Heading Mapped to:
Entry Terms:
- Nephrotic Syndrome, Type 1
- Congenital nephrotic syndrome, Finnish type
- Nephrosis 1, congenital, Finnish type
- Congenital nephrotic syndrome 1
- Finnish congenital nephrosis
- Nephrotic Syndrome, Type 3
- Nphs3
- Nephrotic Syndrome, Early-Onset, Type 3
- Nephrotic Syndrome, Type 2
- Nephrotic Syndrome, Idiopathic