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Am J Transplant. 2008 Jan;8(1):232-7. Epub 2007 Oct 31.

Mosaicism in autosomal dominant polycystic kidney disease revealed by genetic testing to enable living related renal transplantation.

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Richard Bright Renal Unit, Southmead Hospital, Bristol, UK.


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.

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