Title

DNA testing for live kidney donors at risk for autosomal dominant polycystic kidney disease

Document Type

Journal Article

Publication Date

1-15-2009

Journal

Transplantation

Volume

87

Issue

1

DOI

10.1097/TP.0b013e318191e729

Keywords

DNA testing; Genetic screening; Living donation; Molecular diagnostics; Polycystic kidney disease

Abstract

Autosomal dominant polycystic kidney disease (ADPKD) is characterized by age-dependent growth of kidney cysts with end-stage renal disease developing in approximately 50% of affected individuals. Living donors from ADPKD families are at risk for developing ADPKD and may be excluded from renal donation if the diagnosis cannot be conclusively ruled out. Radiographic imaging may be adequate to screen for kidney cysts in most at-risk donors but may fail to identify affected individuals younger than 40 years or older individuals from families with mild disease. In this article, we report a strategy that incorporates genetic testing in the evaluation of live kidney donors at risk for ADPKD whose disease status cannot be established with certainty on the basis of imaging studies alone. We show that DNA diagnostics can be used to enhance safe donation for certain living donor candidates at risk for ADPKD. © 2009 by Lippincott Williams & Wilkins.

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