Patel, Chirag, Tchan, Michel, Savige, Judy, Mallett, Andrew, Tong, Allison, Tunnicliffe, David J., and Rangan, Gopala K. (2015) KHA-CARI Autosomal Dominant Polycystic Kidney Disease Guideline: Genetics and Genetic Counseling. Seminars in Nephrology, 35 (6). pp. 550-556.

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Abstract

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

Item ID:	65893
Item Type:	Article (Research - C1)
ISSN:	1558-4488
Copyright Information:	© 2015 Elsevier Inc. All rights reserved.
Date Deposited:	11 Jul 2024 03:15
FoR Codes:	32 BIOMEDICAL AND CLINICAL SCIENCES > 3202 Clinical sciences > 320213 Medical genetics (excl. cancer genetics) @ 50% 32 BIOMEDICAL AND CLINICAL SCIENCES > 3202 Clinical sciences > 320214 Nephrology and urology @ 50%
SEO Codes:	20 HEALTH > 2001 Clinical health > 200101 Diagnosis of human diseases and conditions @ 100%
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