Clinical utility of PKD2 mutation testing in a polycystic kidney disease cohort attending a specialist nephrology out-patient clinic.

摘要: ADPKD affects approximately 1:1000 of the worldwide population. It is caused by mutations in two genes, PKD1 and PKD2. Although allelic variation has some influence on disease severity, genic effects are strong, with PKD2 predicting later onset ESRF up to 20 years. We therefore screened a cohort patients attending nephrology out-patient clinic for mutations, identify factors that can be used offer targeted gene testing provide improved prognostic information. 142 consecutive individuals presenting hospital service diagnosis CKD stage 4 or less were PKD2, following clinical evaluation provision detailed family history (FH). PKD2 identified one fifth cases. 12% non-PKD2 progressed during this study whilst none mutation did (median 38.5 months follow-up, range 16–88 months, p < 0.03). A significant difference was found age at affected members (non-PKD2 vs. 54 yrs 65 yrs; p < 0.0001). No FH occurring before 50 yrs, whereas predicted positive without ESRF. clinically detection rate pre-ESRF not accurately distinguish those milder renal defined but group likely progress When FH, it offers useful information their families. offered all whose relatives have developed 50.