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However, for patients with no family history, there are no definitive imaging findings that provide an unequivocal ADPKD diagnosis. We analyzed 53 adult polycystic kidney disease patients with no family history. Comprehensive genetic testing was performed using capture\u2010based next\u2010generation sequencing for 69 genes currently known to cause hereditary renal cystic diseases including ADPKD. Through our analysis, 32 patients had\n                    <jats:italic>PKD1<\/jats:italic>\n                    or\n                    <jats:italic>PKD2<\/jats:italic>\n                    mutations. Additionally, 3 patients with disease\u2010causing mutations in\n                    <jats:italic>NPHP4<\/jats:italic>\n                    ,\n                    <jats:italic>PKHD1<\/jats:italic>\n                    , and\n                    <jats:italic>OFD1<\/jats:italic>\n                    were diagnosed with an inherited renal cystic disease other than ADPKD. In patients with\n                    <jats:italic>PKD1<\/jats:italic>\n                    or\n                    <jats:italic>PKD2<\/jats:italic>\n                    mutations, the prevalence of polycystic liver disease, defined as more than 20 liver cysts, was significantly higher (71.9% vs 33.3%,\n                    <jats:italic>P<\/jats:italic>\n                    = .006), total kidney volume was significantly increased (median, 1580.7 mL vs 791.0 mL\n                    <jats:italic>, P<\/jats:italic>\n                    = .027) and mean arterial pressure was significantly higher (median, 98 mm Hg vs 91 mm Hg,\n                    <jats:italic>P<\/jats:italic>\n                    = .012). The genetic screening approach and clinical features described here are potentially beneficial for optimal management of adult sporadic polycystic kidney disease patients.\n                  <\/jats:p>","DOI":"10.1111\/cge.13249","type":"journal-article","created":{"date-parts":[[2018,3,9]],"date-time":"2018-03-09T00:32:41Z","timestamp":1520555561000},"page":"125-131","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":29,"title":["Kidney enlargement and multiple liver cyst formation implicate mutations in\n                    <i>PKD1\/2<\/i>\n                    in adult sporadic polycystic kidney disease"],"prefix":"10.1111","volume":"94","author":[{"given":"T.","family":"Fujimaru","sequence":"first","affiliation":[{"name":"Department of Nephrology, Graduate School of Medical and Dental Sciences Tokyo Medical and Dental University  Tokyo 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