Die polyzystische Nierenerkrankung 5 ist eine autosomal rezessive polyzystische Nierendegeneration, die durch Mutationen im PKHD1-Gen ausgelöst wird.
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1. |
Ward CJ et al. (2002) The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein. ![]() |
2. |
Bergmann C et al. (2003) Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1). ![]() |
3. |
Gupta GK et al. (2000) Urinary basic fibroblast growth factor: a noninvasive marker of progressive cystic renal disease in a child. ![]() |
4. |
None (2002) Another cystic mystery solved. ![]() |
5. |
Guay-Woodford LM et al. (2003) Autosomal recessive polycystic kidney disease: the clinical experience in North America. ![]() |
6. |
Bosch BM et al. (2003) Autosomal recessive polycystic kidney disease: improvement of renal function. ![]() |
7. |
Wang S et al. (2004) The autosomal recessive polycystic kidney disease protein is localized to primary cilia, with concentration in the basal body area. ![]() |
8. |
Zhang MZ et al. (2004) PKHD1 protein encoded by the gene for autosomal recessive polycystic kidney disease associates with basal bodies and primary cilia in renal epithelial cells. ![]() |
9. |
Bergmann C et al. (2005) Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD). ![]() |
10. |
Adeva M et al. (2006) Clinical and molecular characterization defines a broadened spectrum of autosomal recessive polycystic kidney disease (ARPKD). ![]() |
11. |
Torra R et al. (1996) Renal-hepatic-pancreatic dysplasia: an autosomal recessive malformation. ![]() |
12. |
Zerres K et al. (1998) Prenatal diagnosis of autosomal recessive polycystic kidney disease (ARPKD): molecular genetics, clinical experience, and fetal morphology. ![]() |
13. |
OMIM.ORG article Omim 263200![]() |