Clinical utility of PKD2 mutation testing in a polycystic kidney disease cohort attending a specialist nephrology out-patient clinic
BMC Nephrology, 08/16/2012
Robinson C et al. – PKD2 testing has a clinically significant detection rate in the pre–ESRF population. It did not accurately distinguish those individuals with milder renal disease defined by stage of CKD but did identify a group less likely to progress to ESRF. When used with detailed family history, it also offers useful prognostic information for individuals and their families. It can usefully be offered to all but those whose relatives have developed ESRF before the sixth decade.