Tchan, Michel, Savige, Judy, Patel, Chirag, Mallett, Andrew, Tong, Allison, Tunnicliffe, David J., and Rangan, Gopala K. (2015) KHA-CARI Autosomal Dominant Polycystic Kidney Disease Guideline: Genetic Testing for Diagnosis. Seminars in Nephrology, 35 (6). 545-549 e2.

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Abstract

[Extract] Mutations in two genes are known to cause autosomal dominant polycystic kidney disease (ADPKD)—polycystic kidney disease 1 ( PKD1 ) 1 and polycystic kidney disease 2 ( PKD2 ). 2 For families in which mutations are found (noting that for 10% of patients who meet clinical diagnostic criteria for ADPKD, mutations in either PKD1 or PKD2 are not found with current testing methodologies), PKD1 mutations account for 85% and PKD2 mutations for 15% of cases. 34 There is no evidence to support the presence of a third locus.

Item ID:	65899
Item Type:	Article (Scholarly Work)
ISSN:	1558-4488
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Date Deposited:	19 Dec 2024 06:34
FoR Codes:	32 BIOMEDICAL AND CLINICAL SCIENCES > 3202 Clinical sciences > 320214 Nephrology and urology @ 50% 32 BIOMEDICAL AND CLINICAL SCIENCES > 3202 Clinical sciences > 320213 Medical genetics (excl. cancer genetics) @ 50%
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