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Family History of Renal Disease Severity Predicts the Mutated Gene in ADPKD

Moumita Barua^*, Onur Cil^*, Andrew D. Paterson, Kairon Wang^*, Ning He^*, Elizabeth Dicks, Patrick Parfrey and York Pei^*

*Division of Nephrology, University of Toronto, and
Program in Genetics and Genomic Biology, Hospital for Sick Children, Toronto, Ontario, and
Division of Nephrology, Memorial University, St. Johns, Newfoundland, Canada

Correspondence: Dr. York Pei, Divisions of Nephrology and Genomic Medicine, Department of Medicine, University of Toronto and University Health Network, 8N838, 585 University Avenue, Toronto, Ontario, Canada M5G2N3. Phone: 416-340-4257; Fax: 416-340-4999; E-mail: york.pei{at}uhn.on.ca

Received for publication February 10, 2009. Accepted for publication April 1, 2009.

Mutations of PKD1 and PKD2 account for 85 and 15% of cases of autosomal dominant polycystic kidney disease (ADPKD), respectively. Clinically, PKD1 is more severe than PKD2, with a median age at ESRD of 53.4 versus 72.7 yr. In this study, we explored whether a family history of renal disease severity predicts the mutated gene in ADPKD. We examined the renal function (estimated GFR and age at ESRD) of 484 affected members from 90 families who had ADPKD and whose underlying genotype was known. We found that the presence of at least one affected family member who developed ESRD at age 55 was highly predictive of a PKD1 mutation (positive predictive value 100%; sensitivity 72%). In contrast, the presence of at least one affected family member who continued to have sufficient renal function or developed ESRD at age >70 was highly predictive of a PKD2 mutation (positive predictive value 100%; sensitivity 74%). These data suggest that close attention to the family history of renal disease severity in ADPKD may provide a simple means of predicting the mutated gene, which has prognostic implications.

Copyright © 2009 by the American Society of Nephrology. Online ISSN: 1533-3450 Print ISSN: 1046-6673