Congenital nephrotic syndrome type 04
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 in NPHS4 is accompanied by mesangial sclerosis and possibly abnormalities of sexual organ development.
Takata A et al. (2000) Constitutional WT1 correlate with clinical features in children with progressive nephropathy.[^]
Ito S et al. (2001) Isolated diffuse mesangial sclerosis and Wilms tumor suppressor gene.[^]
Ohtaka A et al. (2002) Phenotypic change of glomerular podocytes in primary focal segmental glomerulosclerosis: developmental paradigm?[^]
Ito S et al. (2003) Alport syndrome-like basement membrane changes in Frasier syndrome: an electron microscopy study.[^]
Mendelsohn HB et al. (1982) Familial early-onset nephrotic syndrome: diffuse mesangial sclerosis. Clinico-pathological study of a kindred.[^]
Jeanpierre C et al. (1998) Identification of constitutional WT1 mutations, in patients with isolated diffuse mesangial sclerosis, and analysis of genotype/phenotype correlations by use of a computerized mutation database.[^]