Early-onset nephrotic syndrome with diffuse mesangial sclerosis 256370
Pedigree
Diagnosticstrategy
Forms
Print page
Sprachewechseln
Clinical feature:
Definition: Familial mesangial sclerosis is an autosomal dominant disease caused by mutations of the Wilms tumour 1 gene.
Systematic link table:
Literature:
Ito S et al. (2003) Alport syndrome-like basement membrane changes in Frasier syndrome: an electron microscopy study. Ohtaka A et al. (2002) Phenotypic change of glomerular podocytes in primary focal segmental glomerulosclerosis: developmental paradigm? Ito S et al. (2001) Isolated diffuse mesangial sclerosis and Wilms tumor suppressor gene. Takata A et al. (2000) Constitutional WT1 correlate with clinical features in children with progressive nephropathy. 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. Mendelsohn HB et al. (1982) Familial early-onset nephrotic syndrome: diffuse mesangial sclerosis. Clinico-pathological study of a kindred.
