title: DNA testing for live kidney donors at risk for autosomal dominant 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.
authors.affiliation: Division of Nephrology, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
authors.forename: Edmund
authors.initials: E
authors.lastname: Huang
authors.forename: Millie
authors.initials: M
authors.lastname: Samaniego-Picota
authors.forename: Thomas
authors.initials: T
authors.lastname: McCune
authors.forename: Joseph K
authors.initials: JK
authors.lastname: Melancon
authors.forename: Robert A
authors.initials: RA
authors.lastname: Montgomery
authors.forename: Richard
authors.initials: R
authors.lastname: Ugarte
authors.forename: Edward
authors.initials: E
authors.lastname: Kraus
authors.forename: Karl
authors.initials: K
authors.lastname: Womer
authors.forename: Hamid
authors.initials: H
authors.lastname: Rabb
authors.forename: Terry
authors.initials: T
authors.lastname: Watnick
mesh_terms: D000328:Adult; D000465:Algorithms; D001483:Base Sequence; D004247:DNA / Q000032:analysis* / Q000235:genetics*; D005820:Genetic Testing; D006801:Humans; D016030:Kidney Transplantation; D019520:Living Donors; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D016891:Polycystic Kidney, Autosomal Dominant / Q000000981:diagnostic imaging / Q000235:genetics* / Q000601:surgery; D012307:Risk Factors; D050396:TRPP Cation Channels / Q000235:genetics; D014019:Tissue Donors; D014463:Ultrasonography
chemical_list: D004247:DNA; D050396:TRPP Cation Channels