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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Serge Korjian, Yazan Daaboul
Overview
Causes
ADPKD is an inherited disorder with 2 possible etiologic mutations. PKD1 mutations found on short arm of chromosome 16 (16p13.3)[1] accounts for roughly 85% of cases of ADPKD while PKD2 mutations found on the long arm of chromosome 4 (4q21)[2] account for 15% of the remaining cases.[3] All cases of ADPKD are heterozygous for either PKD mutations or both. Homozygous cases usually die in utero.[4] Generally, PKD1 mutants have more severe renal disease with mean age at onset of ESRD around 50 years compared to 75 years in PKD2 mutants.[5] Patients heterozygous for both mutations have the most severe renal manifestations. Despite the monogenic nature of the disease, the phenotype and severity of the disease as well as the extrarenal manifestations have been known to vary even within the same family. Several mechanisms have been proposed to explain this variability including a two-hit hypothesis involving loss of two PKD alleles in both germline and somatic cell lines, haploinsufficiency, and environmental factors modifying disease processes.[6]
References
- ↑ "Polycystic kidney disease: the complete structure of the PKD1 gene and its protein. The International Polycystic Kidney Disease Consortium". Cell. 81 (2): 289–98. 1995. PMID 7736581.
- ↑ Mochizuki T, Wu G, Hayashi T, Xenophontos SL, Veldhuisen B, Saris JJ; et al. (1996). "PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein". Science. 272 (5266): 1339–42. PMID 8650545 Check
|pmid=value (help). - ↑ Torra R, Badenas C, Darnell A, Nicolau C, Volpini V, Revert L; et al. (1998). "[Clinical, genetic and molecular studies on autosomal dominant polycystic kidney disease]". Med Clin (Barc). 110 (13): 481–7. PMID 9611728.
- ↑ Paterson AD, Wang KR, Lupea D, St George-Hyslop P, Pei Y (2002). "Recurrent fetal loss associated with bilineal inheritance of type 1 autosomal dominant polycystic kidney disease". Am J Kidney Dis. 40 (1): 16–20. doi:10.1053/ajkd.2002.33908. PMID 12087556.
- ↑ Hateboer N, v Dijk MA, Bogdanova N, Coto E, Saggar-Malik AK, San Millan JL; et al. (1999). "Comparison of phenotypes of polycystic kidney disease types 1 and 2. European PKD1-PKD2 Study Group". Lancet. 353 (9147): 103–7. PMID 10023895.
- ↑ Torres VE, Harris PC, Pirson Y (2007). "Autosomal dominant polycystic kidney disease". Lancet. 369 (9569): 1287–301. doi:10.1016/S0140-6736(07)60601-1. PMID 17434405.