{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,9]],"date-time":"2026-06-09T12:00:07Z","timestamp":1781006407289,"version":"3.54.1"},"reference-count":0,"publisher":"Oxford University Press (OUP)","license":[{"start":{"date-parts":[[2022,12,23]],"date-time":"2022-12-23T00:00:00Z","timestamp":1671753600000},"content-version":"am","delay-in-days":1,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>Congenital anomalies of the kidney and urinary tracts (CAKUT) are the leading cause of kidney failure in children with phenotypic and genotypic heterogeneity. Our objective was to describe the genetic spectrum and identify the risk factors for kidney failure in children with CAKUT.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>Clinical and genetic data were derived from a multicenter network (Chinese Children Genetic Kidney Disease Database, CCGKDD) and the Chigene database. A total of 925 children with CAKUT who underwent genetic testing from 2014 to 2020 across China were studied. Data for a total of 584 children wereobtained from the CCGKDD, including longitudinal data regarding kidney function. The risk factors for kidney failure were determined by the Kaplan\u2013Meier method and Cox proportional hazards models.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>A genetic diagnosis was established in 96 out of 925 (10.3%) children, including 72 (8%) with monogenic variants, 20 (2%) with copy number variants (CNVs), and 4 (0.4%)with major chromosomal anomalies. Patients with skeletal abnormalities were more likely to have large CNVs or abnormal karyotypes than monogenic variants. Eighty-two patients from the CCGKDD progressed to kidney failure at a median age of 13.0 (95% confidence interval, 12.4\u201313.6) years, and twenty-four were genetically diagnosed with variants of PAX2, TNXB, EYA1, HNF1B and GATA3 or the 48, XXYY karyotype. The multivariate analysis indicated that solitary kidney, posterior urethral valves, bilateral hypodysplasia, the presence of certain variants and premature birth were independent prognostic factors.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>The genetic spectrum of CAKUT varies among different subphenotypes. The identified factors indicate areas that require special attention.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1093\/ndt\/gfac338","type":"journal-article","created":{"date-parts":[[2022,12,21]],"date-time":"2022-12-21T15:30:18Z","timestamp":1671636618000},"source":"Crossref","is-referenced-by-count":8,"title":["Genetic spectrum of CAKUT and risk factors for kidney failure: a pediatric multicenter cohort study"],"prefix":"10.1093","author":[{"given":"Jia-Lu","family":"Liu","sequence":"first","affiliation":[{"name":"Shanghai Kidney Development and Pediatric Kidney Disease Research Center , Shanghai , China"},{"name":"Department of Nephrology and Rheumatology, Wuhan Children's Hospital, Tongji Medical College, Huazhong University of Science and Technology , Wuhan , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiao-Wen","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Nephrology and Rheumatology, Children's Hospital Affiliated to Zhengzhou University\/Henan Children's Hospital\/Zhengzhou Children's Hospital , Zhengzhou , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cui-Hua","family":"Liu","sequence":"additional","affiliation":[{"name":"Key Laboratory of Metabolism and Molecular Medicine, Ministry of Education, Department of Biochemistry and Molecular Biology, Institutes of Biomedical Sciences, School of Basic Medical Sciences, Fudan University , Shanghai , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Duan Ma5 Xiao-Jie","family":"Gao","sequence":"additional","affiliation":[{"name":"Department of Pediatric, The First Affiliated Hospital of Zhongshan University , Guangzhou , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiao-Yun","family":"Jiang","sequence":"additional","affiliation":[{"name":"Department of Nephrology, the Children's Hospital, Zhejiang University School of Medicine , Hangzhou , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jian-Hua","family":"Mao","sequence":"additional","affiliation":[{"name":"Department of Nephrology, Shanghai Children's Hospital , Shanghai , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guang-Hua","family":"Zhu","sequence":"additional","affiliation":[{"name":"Department of Nephrology, Children's Hospital of Nanjing Medical University , Nanjing , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ai-Hua","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Nephrology and Rheumatology, Children's Hospital of Chongqing Medical University , Chongqing , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mo","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Pediatric, the Second Xiangya Hospital, Central South University , Changsha, Hunan , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xi-Qiang","family":"Dang","sequence":"additional","affiliation":[{"name":"Department of Pediatric, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University , Wenzhou , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jie-Qiu","family":"Zhuang","sequence":"additional","affiliation":[{"name":"Department of Pediatric Nephrology, Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine , Shanghai , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yu-Feng","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Pediatric, The First Affiliated Hospital of Xiamen University , Xiamen , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hai-Tao","family":"Bai","sequence":"additional","affiliation":[{"name":"Department of Nephrology and Rheumatology, Xuzhou Children's Hospital , Xuzhou , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rui-Feng","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Pediatric, Xiamen Maternal and Child Health Hospital , Xiamen , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tong","family":"Shen","sequence":"additional","affiliation":[{"name":"Department of Urology, Children's Hospital of Fudan University, National Children's Medical Center , Shanghai , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yun-Li","family":"BI","sequence":"additional","affiliation":[{"name":"Clinical Genetic Center, Children's Hospital of Fudan University, National Children's Medical Center , Shanghai , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yu-Bo","family":"Sun","sequence":"additional","affiliation":[{"name":"Department of Nephrology and Rheumatology, Wuhan Children's Hospital, Tongji Medical College, Huazhong University of Science and Technology , Wuhan , China"},{"name":"Clinical Genetic Center, Children's Hospital of Fudan University, National Children's Medical Center , Shanghai , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiang","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Nephrology and Rheumatology, Wuhan Children's Hospital, Tongji Medical College, Huazhong University of Science and Technology , Wuhan , China"},{"name":"Clinical Genetic Center, Children's Hospital of Fudan University, National Children's Medical Center , Shanghai , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bing-Bing","family":"Wu","sequence":"additional","affiliation":[{"name":"Clinical Genetic Center, Children's Hospital of Fudan University, National Children's Medical Center , Shanghai , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jing","family":"Chen","sequence":"additional","affiliation":[{"name":"Shanghai Kidney Development and Pediatric Kidney Disease Research Center , Shanghai , China"},{"name":"Department of Nephrology and Rheumatology, Wuhan Children's Hospital, Tongji Medical College, Huazhong University of Science and Technology , Wuhan , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2839-3419","authenticated-orcid":false,"given":"Jia","family":"Rao","sequence":"additional","affiliation":[{"name":"Shanghai Kidney Development and Pediatric Kidney Disease Research Center , Shanghai , China"},{"name":"Department of Nephrology and Rheumatology, Wuhan Children's Hospital, Tongji Medical College, Huazhong University of Science and Technology , Wuhan , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiao-Shan","family":"Tang","sequence":"additional","affiliation":[{"name":"Shanghai Kidney Development and Pediatric Kidney Disease Research Center , Shanghai , China"},{"name":"Department of Nephrology and Rheumatology, Wuhan Children's Hospital, Tongji Medical College, Huazhong University of Science and Technology , Wuhan , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3056-6737","authenticated-orcid":false,"given":"Qian","family":"Shen","sequence":"additional","affiliation":[{"name":"Shanghai Kidney Development and Pediatric Kidney Disease Research Center , Shanghai , China"},{"name":"Department of Nephrology and Rheumatology, Wuhan Children's Hospital, Tongji Medical College, Huazhong University of Science and Technology , Wuhan , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2956-7436","authenticated-orcid":false,"given":"Hong","family":"Xu","sequence":"additional","affiliation":[{"name":"Shanghai Kidney Development and Pediatric Kidney Disease Research Center , Shanghai , China"},{"name":"Department of Nephrology and Rheumatology, Wuhan Children's Hospital, Tongji Medical College, Huazhong University of Science and Technology , Wuhan , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"Chinese Children Genetic Kidney Disease Database (CCGKDD), \u201cInternet Plus\u201d Nephrology Alliance of the National Center for Children's Care Department of Nephrology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2022,12,22]]},"container-title":["Nephrology Dialysis Transplantation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/ndt\/advance-article-pdf\/doi\/10.1093\/ndt\/gfac338\/48355886\/gfac338.pdf","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/ndt\/advance-article-pdf\/doi\/10.1093\/ndt\/gfac338\/48355886\/gfac338.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,23]],"date-time":"2022-12-23T00:21:25Z","timestamp":1671754885000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/ndt\/advance-article\/doi\/10.1093\/ndt\/gfac338\/6957405"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,12,22]]},"references-count":0,"URL":"https:\/\/doi.org\/10.1093\/ndt\/gfac338","relation":{},"ISSN":["0931-0509","1460-2385"],"issn-type":[{"value":"0931-0509","type":"print"},{"value":"1460-2385","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,12,22]]},"article-number":"gfac338"}}