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Although allelic variation has some influence on disease severity, genic effects are strong, with<jats:italic>PKD2<\/jats:italic>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<jats:italic>PKD2<\/jats:italic>mutations, to identify factors that can be used to offer targeted gene testing and to provide patients with improved prognostic information.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>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<jats:italic>PKD2<\/jats:italic>, following clinical evaluation and provision of a detailed family history (FH).<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p><jats:italic>PKD2<\/jats:italic>mutations were identified in one fifth of cases. 12% of non-<jats:italic>PKD2<\/jats:italic>patients progressed to ESRF during this study whilst none with a<jats:italic>PKD2<\/jats:italic>mutation did (median 38.5 months of follow-up, range 16\u201388 months,<jats:italic>p<\/jats:italic>\u2009&lt;\u20090.03). A significant difference was found in age at ESRF of affected family members (non-<jats:italic>PKD2<\/jats:italic>vs.<jats:italic>PKD2<\/jats:italic>, 54 yrs vs. 65 yrs;<jats:italic>p<\/jats:italic>\u2009&lt;\u20090.0001). No<jats:italic>PKD2<\/jats:italic>mutations were identified in patients with a FH of ESRF occurring before age 50 yrs, whereas a<jats:italic>PKD2<\/jats:italic>mutation was predicted by a positive FH without ESRF.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p><jats:italic>PKD2<\/jats:italic>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 FH, it offers useful prognostic information for individuals and their families. It can therefore be offered to all but those whose relatives have developed ESRF before age 50.<\/jats:p><\/jats:sec>","DOI":"10.1186\/1471-2369-13-79","type":"journal-article","created":{"date-parts":[[2012,8,3]],"date-time":"2012-08-03T16:14:08Z","timestamp":1344010448000},"update-policy":"http:\/\/dx.doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Clinical utility of PKD2 mutation testing in a polycystic kidney disease cohort attending a specialist nephrology out-patient clinic"],"prefix":"10.1186","volume":"13","author":[{"given":"Caroline","family":"Robinson","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas F","family":"Hiemstra","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Deborah","family":"Spencer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sarah","family":"Waller","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura","family":"Daboo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fiona E","family":"Karet Frankl","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Richard N","family":"Sandford","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2012,8,3]]},"reference":[{"issue":"3","key":"363_CR1","doi-asserted-by":"publisher","first-page":"755","DOI":"10.1681\/ASN.2004090758","volume":"16","author":"AD Paterson","year":"2005","unstructured":"Paterson AD, Magistroni R, He N, Wang K, Johnson A, Fain PR, Dicks E, Parfrey P, St George-Hyslop P, Pei Y: Progressive loss of renal function is an age-dependent heritable trait in type 1 autosomal dominant polycystic kidney disease. 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