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

ABSTRACT: 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 mutations predicting later onset of ESRF by up to 20 years. We therefore screened a cohort of ADPKD patients attending a nephrology out-patient clinic for PKD2 mutations, to identify factors that can be used to offer targeted gene testing and to provide patients with improved prognostic information.142 consecutive individuals presenting to a hospital nephrology out-patient service with a diagnosis of ADPKD and CKD stage 4 or less were screened for mutations in PKD2, following clinical evaluation and provision of a detailed family history (FH).PKD2 mutations were identified in one fifth of cases. 12% of non-PKD2 patients progressed to ESRF during this study whilst none with a PKD2 mutation did (median 38.5 months of follow-up, range 16-88 months, p?

SUBMITTER: Robinson C

PROVIDER: S-EPMC3502417 | biostudies-literature | 2012 Aug

REPOSITORIES: biostudies-literature

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

Robinson Caroline C Hiemstra Thomas F TF Spencer Deborah D Waller Sarah S Daboo Laura L Karet Frankl Fiona E FE Sandford Richard N RN

BMC nephrology 20120803

<h4>Background</h4>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 mutations predicting later onset of ESRF by up to 20 years. We therefore screened a cohort of ADPKD patients attending a nephrology out-patient clinic for PKD2 mutations, to identify factors that can be used to offer targeted gene testing and to provide patie ...[more]

PMID: 22863349

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Project description:BackgroundOutcomes after acute kidney injury (AKI) are well described, but not for those already under nephrology clinic care. This is where discussions about kidney failure risk are commonplace. We evaluated whether the established kidney failure risk equation (KFRE) should account for previous AKI episodes when used in this setting.MethodsThis observational cohort study included 7491 people referred for nephrology clinic care in British Columbia in 2003-09 followed to 2016. Predictors were previous Kidney Disease: Improving Global Outcomes-based AKI, age, sex, proteinuria, estimated glomerular filtration rate (eGFR) and renal diagnosis. Outcomes were 5-year kidney failure and death. We developed cause-specific Cox models (AKI versus no AKI) for kidney failure and death, stratified by eGFR (</?30?mL/min/1.73?m2). We also compared prediction models comparing the 5-year KFRE with two refitted models, one with and one without AKI as a predictor.ResultsAKI was associated with increased kidney failure (33.1% versus 26.3%) and death (23.8% versus 16.8%) (P ?<?0.001). In Cox models, AKI was independently associated with increased kidney failure in those with an eGFR ?30?mL/min/1.73?m2 {hazard ratio [HR] 1.35 [95% confidence interval (CI) 1.07-1.70]}, no increase in those with eGFR <30?mL/min/1.73?m2 ([HR 1.05 95% CI 0.91-1.21)] and increased mortality in both subgroups [respective HRs 1.89 (95% CI 1.56-2.30) and 1.43 (1.16-1.75)]. Incorporating AKI into a refitted kidney failure prediction model did not improve predictions on comparison of receiver operating characteristics (P?=?0.16) or decision curve analysis. The original KFRE calibrated poorly in this setting, underpredicting risk.ConclusionsAKI carries a poorer long-term prognosis among those already under nephrology care. AKI may not alter kidney failure risk predictions, but the use of prediction models without appreciating the full impact of AKI, including increased mortality, would be simplistic. People with kidney diseases have risks beyond simply kidney failure. This complexity and variability of outcomes of individuals is important.

Dataset Information

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

Publications

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

Similar Datasets

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