{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T06:45:12Z","timestamp":1792133112544,"version":"4.4.0"},"reference-count":57,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T00:00:00Z","timestamp":1792022400000},"content-version":"vor","delay-in-days":14,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T00:00:00Z","timestamp":1790812800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Nephrology"],"published-print":{"date-parts":[[2026,10]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Aim<\/jats:title>\n                    <jats:p>\n                      Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common inherited causes of kidney failure. We performed a whole\u2010exome sequencing study that aimed to characterize the spectrum of\n                      <jats:italic>PKD1<\/jats:italic>\n                      and\n                      <jats:italic>PKD2<\/jats:italic>\n                      variants in a Vietnamese ADPKD cohort and to evaluate the clinical utility of family\u2010based cascade genetic testing.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>This cross\u2010sectional descriptive study included 40 unrelated patients with clinically diagnosed polycystic kidney disease. Variants were identified in probands using whole\u2010exome sequencing. Family\u2010based genetic testing was subsequently performed using Sanger sequencing in 104 relatives. Cascade screening was restricted to families with pathogenic or likely pathogenic variants, whereas variant of uncertain significance families were evaluated separately through segregation analysis to support variant interpretation and potential reclassification. Clinical and genetic characteristics were described and exploratory genotype\u2013phenotype analyses were performed.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Genetic testing identified\n                      <jats:italic>PKD1<\/jats:italic>\n                      variants in 77.5% of patients,\n                      <jats:italic>PKD2<\/jats:italic>\n                      variants in 17.5% and no ADPKD\u2010related variants in 5.0%. A total of 37 potentially relevant variants were detected, including 31 in\n                      <jats:italic>PKD1<\/jats:italic>\n                      (83.8%) and six in\n                      <jats:italic>PKD2<\/jats:italic>\n                      (16.2%). Nine novel variants were identified.\n                      <jats:italic>PKD1<\/jats:italic>\n                      carriers were younger than\n                      <jats:italic>PKD2<\/jats:italic>\n                      carriers (\n                      <jats:italic>p<\/jats:italic>\n                      \u2009=\u20090.029) at the time of evaluation. Apart from this age difference, no other clinical characteristics differed significantly according to gene type or variant class. Cascade screening of 89 relatives from families with pathogenic or likely pathogenic variants revealed that 53 (59.6%) carried the familial variant, whereas 36 (40.4%) did not. Among 53 variant\u2010positive relatives, 34 (64.2%) were symptomatic and 19 (35.8%) were asymptomatic at the time of evaluation. In contrast, no variant\u2010negative relatives showed clinical evidence of ADPKD (\n                      <jats:italic>p<\/jats:italic>\n                      \u2009&lt;\u20090.001). These findings are consistent with autosomal dominant segregation of the familial variant and support the clinical utility of cascade screening.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      This study expands the known genetic spectrum of ADPKD in Vietnamese families and demonstrates the predominance of\n                      <jats:italic>PKD1<\/jats:italic>\n                      variants in this cohort. Family\u2010based cascade screening was useful for identifying variant\u2010positive relatives before overt clinical manifestation, thereby supporting earlier surveillance and genetic counselling.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/nep.70290","type":"journal-article","created":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T05:55:56Z","timestamp":1792130156000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Genetic Spectrum and Family\u2010Based Cascade Screening in Vietnamese Families With Autosomal Dominant Polycystic Kidney Disease"],"prefix":"10.1111","volume":"31","author":[{"given":"Nguyen Thi An","family":"Thuy","sequence":"first","affiliation":[{"name":"Hanoi Medical University  Hanoi Vietnam"},{"name":"Center for Nephrology, Urology, and Dialysis, Bach Mai Hospital  Hanoi Vietnam"},{"name":"Department of Internal Medicine Hanoi Medical University  Hanoi Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5059-8106","authenticated-orcid":false,"given":"Van Khanh","family":"Tran","sequence":"additional","affiliation":[{"name":"Center for Gene and Protein Research, Hanoi Medical University  Hanoi Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ngoc Lan","family":"Nguyen","sequence":"additional","affiliation":[{"name":"Center for Gene and Protein Research, Hanoi Medical University  Hanoi Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0000-9557-9868","authenticated-orcid":false,"given":"Le Thi","family":"Phuong","sequence":"additional","affiliation":[{"name":"Center for Gene and Protein Research, Hanoi Medical University  Hanoi Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9866-5689","authenticated-orcid":false,"given":"Thi Ha","family":"Vu","sequence":"additional","affiliation":[{"name":"Department of Medical Biology and Genetics Hanoi Medical University  Hanoi Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thi Nhu","family":"Cao","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine Hanoi Medical University  Hanoi Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0003-4703-1947","authenticated-orcid":false,"given":"Truong Minh","family":"Do","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine Hanoi Medical University  Hanoi Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0007-8752-8930","authenticated-orcid":false,"given":"Phan Long","family":"Nguyen","sequence":"additional","affiliation":[{"name":"Center for Gene and Protein Research, Hanoi Medical University  Hanoi Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0006-1819-700X","authenticated-orcid":false,"given":"Thao Linh","family":"Tran","sequence":"additional","affiliation":[{"name":"Hanoi Medical University  Hanoi Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tran Nhat Minh","family":"Dang","sequence":"additional","affiliation":[{"name":"Hanoi Medical University  Hanoi Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0003-6832-2727","authenticated-orcid":false,"given":"Thinh Huy","family":"Tran","sequence":"additional","affiliation":[{"name":"Biochemistry Department Hanoi Medical University  Hanoi Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0004-1544-2386","authenticated-orcid":false,"given":"Trung Dung","family":"Nghiem","sequence":"additional","affiliation":[{"name":"Center for Nephrology, Urology, and Dialysis, Bach Mai Hospital  Hanoi Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,10,15]]},"reference":[{"key":"e_1_2_9_2_1","volume-title":"StatPearls","author":"Finnigan N. 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