[HTML][HTML] Mosaicism in autosomal dominant polycystic kidney disease revealed by genetic testing to enable living related renal transplantation
A Connor, PW Lunt, C Dolling, Y Patel… - American Journal of …, 2008 - Elsevier
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.
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.