Early-onset nephrotic syndrome with diffuse mesangial sclerosis is a familial congenital nephrotic syndrome caused by mutations of the Wilms tumour 1 gene. Inheritance is autosomal dominant.
Proteinuria | |
Proteinuria in NPHS4 is accompanied by mesangial sclerosis and possibly abnormalities of sexual organ development. |
1. |
Takata A et al. (2000) Constitutional WT1 correlate with clinical features in children with progressive nephropathy. |
2. |
Ito S et al. (2001) Isolated diffuse mesangial sclerosis and Wilms tumor suppressor gene. |
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Ohtaka A et al. (2002) Phenotypic change of glomerular podocytes in primary focal segmental glomerulosclerosis: developmental paradigm? |
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Ito S et al. (2003) Alport syndrome-like basement membrane changes in Frasier syndrome: an electron microscopy study. |
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Mendelsohn HB et al. (1982) Familial early-onset nephrotic syndrome: diffuse mesangial sclerosis. Clinico-pathological study of a kindred. |
7. |
OMIM.ORG article Omim 256370 |