{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T02:41:06Z","timestamp":1772160066790,"version":"3.50.1"},"reference-count":15,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2021,7,19]],"date-time":"2021-07-19T00:00:00Z","timestamp":1626652800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81873595"],"award-info":[{"award-number":["81873595"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82000627"],"award-info":[{"award-number":["82000627"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2021,9]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    <jats:italic>PKD2<\/jats:italic>\n                    gene variants account for 4.5% to 20% of patients with autosomal dominant polycystic kidney disease (ADPKD). Little is known about the clinical characteristics of\n                    <jats:italic>PKD2<\/jats:italic>\n                    variants in Chinese patients with ADPKD. Herein, we performed a comprehensive search for variants of\n                    <jats:italic>PKD2<\/jats:italic>\n                    gene in 44 Chinese ADPKD pedigrees and a total of 37 variants were identified. Of these 37 variants, 18 were nonsense variants, 10 frameshift variants, 4 missense variants, and 5 splice site variants. 11\/37 variants were detected for the first time. The median age at diagnosis was 30.5\u2009years, and positive family history was detected in 77.27% patients, liver cysts in 68.18%, hypertension in 45.45%, nephrolithiasis in 31.82%, macro\u2010hematuria in 22.73%, and proteinuria in 13.63%. The level of estimated glomerular filtration rate in 8\/39 patients were blow 60\u2009ml\/min\/1.73m\n                    <jats:sup>2<\/jats:sup>\n                    . 11\/17 patients were classified as rapid progression by Mayo Clinic classification. The end stage renal disease (ESRD) events were reported in 9\/22 pedigrees, and the presence of nephrolithiasis and macro\u2010hematuria were significantly associated with ESRD in the pedigrees with\n                    <jats:italic>PKD2<\/jats:italic>\n                    variants. The identified variants and clinical features will facilitate the early diagnosis and prognosis prediction in Chinese ADPKD patients with\n                    <jats:italic>PKD2<\/jats:italic>\n                    variants.\n                  <\/jats:p>","DOI":"10.1111\/cge.14008","type":"journal-article","created":{"date-parts":[[2021,6,8]],"date-time":"2021-06-08T17:43:49Z","timestamp":1623174229000},"page":"340-347","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["<scp>\n                      <i>PKD2<\/i>\n                    <\/scp>\n                    gene variants in Chinese patients with autosomal dominant polycystic kidney disease"],"prefix":"10.1111","volume":"100","author":[{"given":"Dechao","family":"Xu","sequence":"first","affiliation":[{"name":"Department of Nephrology, Changzheng Hospital Naval Medical University  Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rongrong","family":"Bian","sequence":"additional","affiliation":[{"name":"Department of Nephrology, Changzheng Hospital Naval Medical University  Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Suxin","family":"Tuo","sequence":"additional","affiliation":[{"name":"Department of Nephrology, Changzheng Hospital Naval Medical University  Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xuezhen","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Nephrology, Changzheng Hospital Naval Medical University  Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jing","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Nephrology, Changzheng Hospital Naval Medical University  Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaohong","family":"Xing","sequence":"additional","affiliation":[{"name":"Department of Nephrology, Changzheng Hospital Naval Medical University  Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yunhui","family":"Lu","sequence":"additional","affiliation":[{"name":"Department of Nephrology, Changzheng Hospital Naval Medical University  Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lijun","family":"Sun","sequence":"additional","affiliation":[{"name":"Department of Nephrology, Changzheng Hospital Naval Medical University  Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaojing","family":"Tang","sequence":"additional","affiliation":[{"name":"Department of Nephrology, Changzheng Hospital Naval Medical University  Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shengqiang","family":"Yu","sequence":"additional","affiliation":[{"name":"Department of Nephrology, Changzheng Hospital Naval Medical University  Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhiguo","family":"Mao","sequence":"additional","affiliation":[{"name":"Department of Nephrology, Changzheng Hospital Naval Medical University  Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yiyi","family":"Ma","sequence":"additional","affiliation":[{"name":"Department of Nephrology, Changzheng Hospital Naval Medical University  Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4663-7993","authenticated-orcid":false,"given":"Changlin","family":"Mei","sequence":"additional","affiliation":[{"name":"Department of Nephrology, Changzheng Hospital Naval Medical University  Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,7,19]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(18)32782-X"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2006121387"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2012070650"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2015010016"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/srep17468"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/srep35945"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1159\/000487899"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(98)03495-3"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.V9101853"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1523-1755.2000.00989.x"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.ASN.0000061774.90975.25"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/ndt\/gfh083"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1053\/j.ajkd.2017.01.046"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1517066113"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.272.5266.1339"}],"container-title":["Clinical 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