What is the role of genetics in the pathophysiology of autosomal dominant polycystic kidney disease (ADPKD)?

Updated: Mar 24, 2020
  • Author: Roser Torra, MD, PhD; Chief Editor: Vecihi Batuman, MD, FASN  more...
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Answer

Approximately 85-90% of patients with ADPKD have an abnormality on the short arm of chromosome 16 (ie, ADPKD type 1 [ADPKD1]). A second defect, termed ADPKD type 2 (ADPKD2), is responsible for 10-15% of ADPKD cases and is found on the long arm of chromosome 4. A third candidate gene, GANAB (Glucosidase II Alpha Subunit), accounting for a very low number of ADPKD cases, has been recently described. [12]  

PKD1 and PKD2 are expressed in most organs and tissues of the human body. The proteins that are encoded by PKD1 and PKD2, polycystin 1 and polycystin 2, seem to function together to regulate the morphologic configuration of epithelial cells. The polycystins are expressed in development as early as the blastocyst stage and are expressed in a broad array of terminally differentiated tissues. The functions of the polycystins have been scrutinized to the greatest extent in epithelial tissues of the kidneys and liver and in vascular smooth muscle (see Etiology).


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