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.
1. |
Hinkes B et al. (2006) Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible. |
2. |
Morgan AR et al. (2007) Association studies of 23 positional/functional candidate genes on chromosome 10 in late-onset Alzheimer's disease. |
3. |
Jefferson JA et al. (2007) Familial nephrotic syndrome: PLCE1 enters the fray. |
4. |
Copelovitch L et al. (2007) Renin-angiotensin axis blockade reduces proteinuria in presymptomatic patients with familial FSGS. |
5. |
Chaib H et al. (2008) Identification of BRAF as a new interactor of PLCepsilon1, the protein mutated in nephrotic syndrome type 3. |
6. |
Gbadegesin R et al. (2008) Mutations in PLCE1 are a major cause of isolated diffuse mesangial sclerosis (IDMS). |
7. |
None (2008) NPHS3: new clues for understanding idiopathic nephrotic syndrome. |
8. |
Löwik M et al. (2008) Bigenic heterozygosity and the development of steroid-resistant focal segmental glomerulosclerosis. |
9. |
OMIM.ORG article Omim 610725 |