title: Mosaicism in autosomal dominant polycystic kidney disease revealed by genetic testing to enable living related renal transplantation.
abstract: Patients with end-stage renal disease (ESRD) secondary to autosomal dominant polycystic kidney disease (ADPKD) receive fewer living-related kidney (LRK) transplants than other groups with ESRD. This relates to the difficulties in excluding the disease in potential donors. We report a case which highlights these difficulties and, by discovery of mosaicism for a new mutation, illustrates the role of clinical and molecular genetic resources in assessing young related kidney donors for patients with ADPKD.
authors.affiliation: Richard Bright Renal Unit, Southmead Hospital, Bristol, UK. andrewconnor1974@hotmail.co.uk
authors.forename: A
authors.initials: A
authors.lastname: Connor
authors.forename: P W
authors.initials: PW
authors.lastname: Lunt
authors.forename: C
authors.initials: C
authors.lastname: Dolling
authors.forename: Y
authors.initials: Y
authors.lastname: Patel
authors.forename: A L
authors.initials: AL
authors.lastname: Meredith
authors.forename: A
authors.initials: A
authors.lastname: Gardner
authors.forename: N K
authors.initials: NK
authors.lastname: Hamilton
authors.forename: C R K
authors.initials: CR
authors.lastname: Dudley
mesh_terms: D000293:Adolescent; D000328:Adult; D005260:Female; D005820:Genetic Testing; D006239:Haplotypes; D006801:Humans; D016030:Kidney Transplantation; D019520:Living Donors; D008297:Male; D009030:Mosaicism; D010375:Pedigree; D016891:Polycystic Kidney, Autosomal Dominant / Q000235:genetics* / Q000601:surgery*