KHA-CARI Autosomal Dominant Polycystic Kidney Disease Guideline: Genetics and Genetic Counseling
Journal Publication ResearchOnline@JCUAbstract
ADPKD is the most common genetic kidney disease, with a prevalence rate between 1:500 and 1:4,000 based on studies in different populations. 123456 It is characterized by development and progressive enlargement of numerous bilateral renal cysts, resulting in end-stage kidney disease (ESKD) in mid- to late adulthood. It accounts for 5% to 10% of ESKD in the dialysis population of developed countries. 7891011 There are also effects on other organ systems including extrarenal cysts (liver, pancreas, and arachnoid membrane), cardiac valvular defects, colonic diverticulosis, abdominal wall hernias, and intracranial arterial aneurysms. 12 A diagnosis of ADPKD therefore has important implications for prognosis, management, renal transplantation, and genetic counseling. A list of Clinical Genetics service providers in Australasia can be found at www.genetics.edu.au
Journal
Seminars in Nephrology
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Volume
35
ISBN/ISSN
1558-4488
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Issue
6
Pages Count
8
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Publisher
Elsevier
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DOI
10.1016/j.semnephrol.2015.10.003