{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T11:57:22Z","timestamp":1791374242840,"version":"4.3.1"},"reference-count":17,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2019,7,25]],"date-time":"2019-07-25T00:00:00Z","timestamp":1564012800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100009592","name":"Beijing Municipal Science and Technology Commission","doi-asserted-by":"publisher","award":["D181100000118006"],"award-info":[{"award-number":["D181100000118006"]}],"id":[{"id":"10.13039\/501100009592","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100009592","name":"Beijing Municipal Science and Technology Commission","doi-asserted-by":"publisher","award":["Z161100000516106"],"award-info":[{"award-number":["Z161100000516106"]}],"id":[{"id":"10.13039\/501100009592","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100009592","name":"Beijing Municipal Science and Technology Commission","doi-asserted-by":"publisher","award":["Z161100000516106 and D181100000118006"],"award-info":[{"award-number":["Z161100000516106 and D181100000118006"]}],"id":[{"id":"10.13039\/501100009592","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["NSFC\u20108182207"],"award-info":[{"award-number":["NSFC\u20108182207"]}],"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":["NSFC\u20108182207"],"award-info":[{"award-number":["NSFC\u20108182207"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100012247","name":"Program of Shanghai Academic Research Leader","doi-asserted-by":"publisher","award":["19XD1420600"],"award-info":[{"award-number":["19XD1420600"]}],"id":[{"id":"10.13039\/501100012247","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2019,11]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>To explore the approaches and diagnostic yield of genetic testing for renal disease in children, we describe the genotype and phenotype of the national cohort of children with renal disease from 13 different regions of China recruited from 2014 to 2018 by building up the multicenter registration system (Chinese Children Genetic Kidney Disease Database, CCGKDD). Genetic diagnosis was confirmed in 42.1% of our cohort of 1001 pediatric patients with clinical suspicion of a genetic renal disease. Of the 106 distinct monogenetic disorders detected, 15 accounted for 60.7% of genetic diagnoses. The diagnostic yield was 29.1% in steroid resistant nephritic syndrome (SRNS), 61.4% in cystic renal disease, 17.0% in congenital anomalies of the kidney and urinary tract (CAKUT), 62.3% in renal tubular disease\/renal calcinosis, and 23.9% for chronic kidney disease (CKD) 3 to 5 stage with unknown origin. Genetic approaches of target gene sequence (TGS), singleton whole\u2010exome sequencing (WES) and trio\u2010WES were performed with diagnostic rates of 44.8%, 36.2%, and 42.6%, respectively. The early use of trio\u2010WES could improve the diagnostic rate especially in renal tubular disease and calcinosis. We report the genetic spectrum of Chinese children with renal disease. Establishment of the CCGKDD will improve the genetic work on renal disease.<\/jats:p>","DOI":"10.1111\/cge.13606","type":"journal-article","created":{"date-parts":[[2019,7,22]],"date-time":"2019-07-22T05:04:51Z","timestamp":1563771891000},"page":"402-410","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":83,"title":["Genetic spectrum of renal disease for 1001 Chinese children based on a multicenter registration system"],"prefix":"10.1111","volume":"96","author":[{"given":"Jia","family":"Rao","sequence":"first","affiliation":[{"name":"Department of Nephrology Children's Hospital of Fudan University, National Pediatric Medical Center of China  Shanghai China"},{"name":"Shanghai Kidney Development and Pediatric Kidney Disease Research Center  Shanghai China"},{"name":"State Key Laboratory of Medical Neurobiology, Institutes of Brain Science and School of Basic Medical Science Fudan University"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaorong","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Nephrology Beijing Children's Hospital Affiliated to Capital University of Medical Science  Beijing China"},{"name":"Beijing Children's Key Laboratory of Chronic Kidney Disease and Blood Purification  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jianhua","family":"Mao","sequence":"additional","affiliation":[{"name":"Department of Nephrology, the Children's Hospital Zhejiang University School of Medicine  Hangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaoshan","family":"Tang","sequence":"additional","affiliation":[{"name":"Department of Nephrology Children's Hospital of Fudan University, National Pediatric Medical Center of China  Shanghai China"},{"name":"Shanghai Kidney Development and Pediatric Kidney Disease Research Center  Shanghai 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China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Li","family":"Sun","sequence":"additional","affiliation":[{"name":"Shanghai Kidney Development and Pediatric Kidney Disease Research Center  Shanghai China"},{"name":"Department of Rheumatology Children's Hospital of Fudan University  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yunli","family":"Bi","sequence":"additional","affiliation":[{"name":"Shanghai Kidney Development and Pediatric Kidney Disease Research Center  Shanghai China"},{"name":"Department of Urology Children's Hospital of Fudan University  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiang","family":"Wang","sequence":"additional","affiliation":[{"name":"Shanghai Kidney Development and Pediatric Kidney Disease Research Center  Shanghai China"},{"name":"Department of Urology Children's Hospital of Fudan University  Shanghai 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