{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T23:31:25Z","timestamp":1790206285668,"version":"4.1.0"},"reference-count":17,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2024,10,13]],"date-time":"2024-10-13T00:00:00Z","timestamp":1728777600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2024,10,13]],"date-time":"2024-10-13T00:00:00Z","timestamp":1728777600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100006606","name":"Natural Science Foundation of Tianjin Municipality","doi-asserted-by":"publisher","award":["21JCZDJC01030"],"award-info":[{"award-number":["21JCZDJC01030"]}],"id":[{"id":"10.13039\/501100006606","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100006606","name":"Natural Science Foundation of Tianjin Municipality","doi-asserted-by":"publisher","award":["23JCQNJC01610"],"award-info":[{"award-number":["23JCQNJC01610"]}],"id":[{"id":"10.13039\/501100006606","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Nephrology"],"published-print":{"date-parts":[[2024,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Introduction<\/jats:title>\n                    <jats:p>\n                      Autosomal recessive polycystic kidney disease (ARPKD) ranks among the most severe chronic kidney diseases (CKD). Its primary cause is variants in the Polycystic Kidney and Hepatic Disease 1 gene (\n                      <jats:italic>PKHD1<\/jats:italic>\n                      ). The clinical spectrum of ARPKD varies widely, ranging from mild late\u2010onset symptoms to severe perinatal mortality. However, achieving an early genetic diagnosis in ARPKD patients before clinical symptoms appear proves challenging.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case Presentation<\/jats:title>\n                    <jats:p>\n                      This case is a 4\u2010year\u2010old boy who experienced a convulsion characterized by a generalized tonic attack lasting approximately 3\u20105 minutes and later sought treatment to our hospital. However, routine abdominal ultrasound examination accidentally detected that he had diffuse liver lesions, splenomegaly, and bilateral renal enlargement with renal pelvis dilation. Given the uncertainty regarding the underlying cause of the patient's structural abnormalities and convulsions, karyotyping, whole exome sequencing (WES), structural variant analysis (SV analysis) of whole genome sequencing (WGS) were recommended. The result of SV analysis revealed that he has an RBT impacting\n                      <jats:italic>PKHD1<\/jats:italic>\n                      and the precise location of breakpoints was confirmed through Long\u2010Range Polymerase Chain Reaction (LR\u2010PCR). However, WES did not screen out pathogenic variants initially, the WES data was reviewed subsequently based on SV analysis results.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      We identified an infrequent variant combination, c.2507T&gt;C (p.V836A) in\n                      <jats:italic>PKHD1<\/jats:italic>\n                      and an RBT with broken\n                      <jats:italic>PKHD1<\/jats:italic>\n                      , which extends the genetic spectrum of ARPKD, and provide a basis for further genetic counselling to the family.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/nep.14401","type":"journal-article","created":{"date-parts":[[2024,10,14]],"date-time":"2024-10-14T00:49:50Z","timestamp":1728866990000},"page":"990-995","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Refining the genetic diagnostic puzzle: A case report on a Chinese\n                    <scp>ARPKD<\/scp>\n                    patient with a reciprocal balanced translocation and c.\n                    <scp>2507\u2009T<\/scp>\n                    \u2009&gt;\u2009C (p.\n                    <scp>V836A<\/scp>\n                    ) in\n                    <scp>\n                      <i>PKHD1<\/i>\n                    <\/scp>"],"prefix":"10.1111","volume":"29","author":[{"given":"Xiaoyu","family":"Liu","sequence":"first","affiliation":[{"name":"Tianjin University Children's Hospital  Tianjin China"},{"name":"Tianjin Children's Hospital  Tianjin China"},{"name":"Tianjin Pediatric Research 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Hospital  Tianjin China"},{"name":"Tianjin Pediatric Research Institute  Tianjin China"},{"name":"Tianjin Key Laboratory of Birth Defects for Prevention and Treatment  Tianjin China"},{"name":"Clinical Pediatric College of Tianjin Medical University, Tianjin Medical University  Tianjin China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yingzi","family":"Cai","sequence":"additional","affiliation":[{"name":"Tianjin University Children's Hospital  Tianjin China"},{"name":"Tianjin Children's Hospital  Tianjin China"},{"name":"Tianjin Pediatric Research Institute  Tianjin China"},{"name":"Tianjin Key Laboratory of Birth Defects for Prevention and Treatment  Tianjin China"},{"name":"Institute of Medical Engineering and Translational Medicine Tianjin University  Tianjin China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dong","family":"Li","sequence":"additional","affiliation":[{"name":"Tianjin Children's Hospital  Tianjin China"},{"name":"Department of 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