Klinik: 

Definition: Das hereditäre nephrotische Syndrom 3 ist eine autosomal rezessive Erkrankung, welche sich mit einem steroid-resistenten nephrotischen Syndrom im Kleinkindesalter manifestiert und das histologische Bild einer mesangialen Sklerose oder einer fokal-segmentalen Glomerulosklerose aufweisen kann.

Literatur: 

Hinkes B et al. (2006) Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible.
Jefferson JA et al. (2007) Familial nephrotic syndrome: PLCE1 enters the fray.
Löwik M et al. (2008) Bigenic heterozygosity and the development of steroid-resistant focal segmental glomerulosclerosis.
Hinkes BG et al. (2008) NPHS3: new clues for understanding idiopathic nephrotic syndrome.
Gbadegesin R et al. (2008) Mutations in PLCE1 are a major cause of isolated diffuse mesangial sclerosis (IDMS).
Chaib H et al. (2008) Identification of BRAF as a new interactor of PLCepsilon1, the protein mutated in nephrotic syndrome type 3.
Copelovitch L et al. (2007) Renin-angiotensin axis blockade reduces proteinuria in presymptomatic patients with familial FSGS.
Morgan AR et al. (2007) Association studies of 23 positional/functional candidate genes on chromosome 10 in late-onset Alzheimer's disease.
Hinkes B et al. (2006) Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible.