{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,8]],"date-time":"2026-02-08T08:16:48Z","timestamp":1770538608579,"version":"3.49.0"},"reference-count":0,"publisher":"S. Karger AG","issue":"3","license":[{"start":{"date-parts":[[2019,1,1]],"date-time":"2019-01-01T00:00:00Z","timestamp":1546300800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2019,1,1]],"date-time":"2019-01-01T00:00:00Z","timestamp":1546300800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am J Nephrol"],"published-print":{"date-parts":[[2019]]},"abstract":"<b><i>Background:<\/i><\/b> Genetic characteristics of polycystic kidney disease (PKD) patients without apparent family history were reported to be different from those with a positive family history. However, the clinical course of PKD patients with no apparent family history is not well documented in the literature. <b><i>Methods:<\/i><\/b> We evaluated the relationship between genotype and the clinical course of 62 PKD patients with no apparent family history. <b><i>Results:<\/i><\/b> The annual decline of renal function was faster in the patients with <i>PKD1<\/i>\/<i>PKD2<\/i> mutation (<i>PKD1<\/i> truncating [\u20133.08; 95% CI \u20135.30 to \u20130.87, <i>p<\/i> = 0.007], <i>PKD1<\/i> nontruncating [\u20132.10; \u20133.82 to \u20130.38, <i>p<\/i> = 0.02], and <i>PKD2<\/i> [\u20132.31; \u20134.40 to \u20130.23, <i>p<\/i> = 0.03]) than in the other patients without <i>PKD1<\/i>\/<i>PKD2<\/i> mutation. Similar results were obtained after adjustment for gender, age, estimated glomerular filtration rate (eGFR), height-adjusted total kidney volume (TKV), and mean arterial pressure (MAP). There was no significant difference in the annual decline of renal function among the different <i>PKD1<\/i>\/<i>PKD2<\/i> groups, but Kaplan-Meier analysis showed that progression to eGFR &#x3c; 15 mL\/min\/1.73 m<sup>2<\/sup> was significantly faster in <i>PKD1<\/i> truncating group (<i>p<\/i> = 0.05). The annual rate of TKV increase was larger in the patients with <i>PKD1<\/i>\/<i>PKD2<\/i> mutation (<i>PKD1<\/i> truncating [4.63; 95% CI 0.62\u20138.64, <i>p<\/i> = 0.03], <i>PKD1<\/i> nontruncating [3.79; 0.55\u20137.03, <i>p<\/i> = 0.02], and <i>PKD2<\/i> [2.11; \u20131.90 to 6.12, <i>p<\/i> = 0.29]) than in the other patients without <i>PKD1<\/i>\/<i>PKD2<\/i> mutation. Similar results were obtained after adjustment for gender, age, eGFR, and MAP. <b><i>Conclusion:<\/i><\/b> Detection of <i>PKD1<\/i>\/<i>PKD2<\/i> mutation, especially <i>PKD1<\/i> truncating, is useful for predicting the renal outcome and rate of TKV increase in PKD patients with no apparent family history.<\/jats:p>","DOI":"10.1159\/000497444","type":"journal-article","created":{"date-parts":[[2019,3,1]],"date-time":"2019-03-01T08:53:37Z","timestamp":1551430417000},"page":"233-240","source":"Crossref","is-referenced-by-count":7,"title":["Genotype-Clinical Correlations in Polycystic Kidney Disease with No Apparent Family History"],"prefix":"10.1159","volume":"49","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7326-4988","authenticated-orcid":false,"given":"Akinari","family":"Sekine","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6825-3456","authenticated-orcid":false,"given":"Takuya","family":"Fujimaru","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Junichi","family":"Hoshino","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tatsuya","family":"Suwabe","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masahiko","family":"Oguro","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroki","family":"Mizuno","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masahiro","family":"Kawada","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Keiichi","family":"Sumida","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rikako","family":"Hiramatsu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eiko","family":"Hasegawa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masayuki","family":"Yamanouchi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Noriko","family":"Hayami","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shintaro","family":"Mandai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Motoko","family":"Chiga","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroaki","family":"Kikuchi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fumiaki","family":"Ando","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takayasu","family":"Mori","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eisei","family":"Sohara","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shinichi","family":"Uchida","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Naoki","family":"Sawa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kenmei","family":"Takaichi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoshifumi","family":"Ubara","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2019,2,28]]},"container-title":["American Journal of Nephrology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/497444","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/497444","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T16:18:20Z","timestamp":1745425100000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000497444"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019]]},"references-count":0,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2019,3,15]]},"published-print":{"date-parts":[[2019,3,14]]}},"URL":"https:\/\/doi.org\/10.1159\/000497444","archive":["Portico"],"relation":{"is-supplemented-by":[{"id-type":"doi","id":"10.6084\/m9.figshare.7745747","asserted-by":"subject"}]},"ISSN":["0250-8095","1421-9670"],"issn-type":[{"value":"0250-8095","type":"print"},{"value":"1421-9670","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019]]}}}