Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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.

Symptoms

Proteinuria
Proteinuria in NPHS4 is accompanied by mesangial sclerosis and possibly abnormalities of sexual organ development.

Systematic

Nephrotic syndrome
Congenital nephrotic syndrome type 01 (Finnish type)
Congenital nephrotic syndrome type 02
Congenital nephrotic syndrome type 03
Congenital nephrotic syndrome type 04
WT1
Congenital nephrotic syndrome type 05 (Pierson syndrome)
Congenital nephrotic syndrome type 06
Congenital nephrotic syndrome type 07
Congenital nephrotic syndrome type 08
Congenital nephrotic syndrome type 09
Congenital nephrotic syndrome type 10
Congenital nephrotic syndrome type 11
Congenital nephrotic syndrome type 12
Congenital nephrotic syndrome type 13
Donnai-Barrow syndrome
GPC5
Glomerulotubular nephropathy
Interstitial lung disease with nephrotic syndrome and epidermolysis bullosa
Lipoprotein glomerulopathy
Schimke Immunoosseous dysplasia
XPO5

References:

1.

Takata A et al. (2000) Constitutional WT1 correlate with clinical features in children with progressive nephropathy.

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2.

Ito S et al. (2001) Isolated diffuse mesangial sclerosis and Wilms tumor suppressor gene.

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3.

Ohtaka A et al. (2002) Phenotypic change of glomerular podocytes in primary focal segmental glomerulosclerosis: developmental paradigm?

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4.

Ito S et al. (2003) Alport syndrome-like basement membrane changes in Frasier syndrome: an electron microscopy study.

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5.

Mendelsohn HB et al. (1982) Familial early-onset nephrotic syndrome: diffuse mesangial sclerosis. Clinico-pathological study of a kindred.

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6.

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.

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7.

OMIM.ORG article

Omim 256370 [^]
Update: April 29, 2019