{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T03:42:24Z","timestamp":1790480544978,"version":"4.1.0"},"reference-count":17,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2021,2,2]],"date-time":"2021-02-02T00:00:00Z","timestamp":1612224000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2021,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Based on the Chinese Children Genetic Kidney Disease Database (CCGKDD), we established a pediatric Gitelman syndrome (GS) cohort to explore the phenotype and genotype characteristics. Thirty\u2010two patients with\n                    <jats:italic>SLC12A3<\/jats:italic>\n                    gene variants were collected. Five cases (16%) were homozygous, 16 (50%) were compound heterozygous, 10 (31%) carried only a single variant, and the other one harbored two de novo variants beyond classification. p.(T60M) was found in eight patients. The average diagnosis age was 7.79\u2009\u00b1\u20093.54\u2009years. A total of 31% of the patients were asymptomatic. Muscle weakness was the most common symptom, accounting for 50%. Earlier age of onset (4.06 \u00b1\u20091.17 yr vs. 8.10 \u00b1\u20093.46 yr vs. 8.61 \u00b1\u20093.56 yr,\n                    <jats:italic>p<\/jats:italic>\n                    &lt;\u20090.05) and lower urinary calcium\u2010creatinine ratio (\n                    <jats:italic>p<\/jats:italic>\n                    =\u20090.024) were found in the homozygous group than those in the heterozygous and compound heterozygous group. Patients with p.(T60M) variant had an earlier age of onset (4.01 \u00b1\u20092.83 yr vs. 6.92 \u00b1\u20093.07 yr,\n                    <jats:italic>p<\/jats:italic>\n                    =\u20090.025) and lower urinary calcium\u2010creatinine ratio (\n                    <jats:italic>p<\/jats:italic>\n                    =\u20090.056). Thus, more than 30% of GS children have no clinical symptoms. Homozygous variant and the p.(T60M) variant may be associated with earlier onset and lower urinary calcium excretion in Chinese pediatric GS.\n                  <\/jats:p>","DOI":"10.1111\/cge.13913","type":"journal-article","created":{"date-parts":[[2020,12,31]],"date-time":"2020-12-31T05:55:57Z","timestamp":1609394157000},"page":"558-564","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":17,"title":["Multi\u2010centre study of the clinical features and gene variant spectrum of Gitelman syndrome in Chinese children"],"prefix":"10.1111","volume":"99","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3056-6737","authenticated-orcid":false,"given":"Qian","family":"Shen","sequence":"first","affiliation":[{"name":"Department of Nephrology Children's Hospital of Fudan University  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jiemei","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Nephrology Shenzhen Children's Hospital  Shenzhen Guangdong China"},{"name":"International Pediatric Nephrology Association (IPNA) fellow at Department of Nephrology Children's Hospital of Fudan University  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Minghui","family":"Yu","sequence":"additional","affiliation":[{"name":"Department of Nephrology Children's Hospital of Fudan University  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhi","family":"Lin","sequence":"additional","affiliation":[{"name":"International Pediatric Nephrology Association (IPNA) fellow at Department of Nephrology Children's Hospital of Fudan University  Shanghai China"},{"name":"Department of Pediatrics Xiangya Hospital, Central South University  Changsha Hunan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaojuan","family":"Nan","sequence":"additional","affiliation":[{"name":"Department of Nephrology Shenzhen Children's Hospital  Shenzhen Guangdong China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beijun","family":"Dong","sequence":"additional","affiliation":[{"name":"Department of Nephrology Shenzhen Children's Hospital  Shenzhen Guangdong China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaoyan","family":"Fang","sequence":"additional","affiliation":[{"name":"Department of Nephrology Children's Hospital of Fudan University  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jing","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Nephrology Children's Hospital of Fudan University  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guixia","family":"Ding","sequence":"additional","affiliation":[{"name":"Department of Nephrology Children's Hospital of Nanjing Medical University  Nanjing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3457-6545","authenticated-orcid":false,"given":"Aihua","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Nephrology Children's Hospital of Nanjing Medical University  Nanjing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chunlin","family":"Gao","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Jinling Hospital  Nanjing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Li","family":"Miao","sequence":"additional","affiliation":[{"name":"Department of Pediatrics The First Affiliated Hospital of Kangda College of Nanjing Medical University\/The First People's Hospital of Lianyungang  Lianyungang China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuanyuan","family":"Xu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics The First Affiliated Hospital of Sun Yat\u2010sen University  Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaoyun","family":"Jiang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics The First Affiliated Hospital of Sun Yat\u2010sen University  Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Haitao","family":"Bai","sequence":"additional","affiliation":[{"name":"Department of Pediatrics The First Affiliated Hospital of Xiamen University  Xiamen China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jieqiu","family":"Zhuang","sequence":"additional","affiliation":[{"name":"Department of Nephrology The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University  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