{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,12]],"date-time":"2025-07-12T22:44:55Z","timestamp":1752360295021,"version":"3.40.4"},"reference-count":32,"publisher":"S. Karger AG","issue":"3","license":[{"start":{"date-parts":[[2014,1,1]],"date-time":"2014-01-01T00:00:00Z","timestamp":1388534400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2014,1,1]],"date-time":"2014-01-01T00:00:00Z","timestamp":1388534400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Horm Res Paediatr"],"published-print":{"date-parts":[[2014]]},"abstract":"<b><i>Objectives:<\/i><\/b> Long-term clinical follow-up and mutation analysis were performed in 27 Chinese congenital hyperinsulinism patients. <b><i>Method:<\/i><\/b> 27 hypoglycemia patients were diagnosed with CHI within 2 years of age. The long-term clinical outcome was analyzed and mutation analysis of 5 hyperinsulinism candidate genes was performed. <b><i>Results:<\/i><\/b> The median onset age of hypoglycemia in the patients was 60 days; 11 patients showed hypoglycemic symptoms in the neonatal stage, and hypoglycemia in most of the patients was first expressed as a seizure. Blood was collected during the hypoglycemic episode and insulin levels were significantly elevated. <i>ABCC8<\/i>,<i> KCNJ11<\/i>, <i>GCK<\/i>, <i>HNF4a<\/i> and <i>GLUD1<\/i> genes were screened for mutation analysis. 14 mutations in <i>ABCC8<\/i> or <i>KCNJ11 <\/i>genes in 12 cases were identified (44%). 57% (8\/14) of the mutations have not been reported before. 83% (10\/12) of the patients have a monoallelic mutation. 58% of these 12 patients were predicted to be focal. 73% of the patients without KATP channel mutations were sensitive to diazoxide. 26 patients were followed over a period of 1-13 years. 50% of all 27 patients showed brain impairment. <b><i>Conclusions:<\/i><\/b> Chinese CHI patients are similar to other ethnic groups in terms of prevalence of KATP-HI, onset age, severity of hypoglycemia and treatment. Mutations in <i>ABCC8<\/i> and <i>KCNJ11<\/i> are common causes of CHI in Chinese patients. Mutation analysis showed more novel and monoallele mutations in KATP genes.<\/jats:p>","DOI":"10.1159\/000356911","type":"journal-article","created":{"date-parts":[[2014,1,9]],"date-time":"2014-01-09T08:07:04Z","timestamp":1389254824000},"page":"169-176","source":"Crossref","is-referenced-by-count":9,"title":["Long-Term Follow-Up and Mutation Analysis of 27 Chinese Cases of Congenital Hyperinsulinism"],"prefix":"10.1159","volume":"81","author":[{"given":"Chang","family":"Su","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chunxiu","family":"Gong","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paul","family":"Sanger","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wenjing","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Di","family":"Wu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yi","family":"Gu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bingyan","family":"Cao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2014,1,9]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1038\/ncpendmet1046"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2008.064337"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1159\/000334444"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2009-2775"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-011-9441-2"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1053\/j.sempedsurg.2010.10.004"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1126\/science.7716548"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199703063361005"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1053\/j.sempedsurg.2010.10.012"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2012-2169"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1530\/EJE-12-0673"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9401"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2009.01152.x"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2010-1281"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2265.2005.02242.x"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1530\/EJE-11-0160"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.075416"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-6-63"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1007\/s00125-006-0246-z"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1086\/519174"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth0810-575"},{"key":"ref22","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth0410-248"},{"key":"ref23","doi-asserted-by":"publisher","DOI":"10.1007\/s12098-010-0100-7"},{"key":"ref24","doi-asserted-by":"publisher","DOI":"10.1002\/emmm.200900018"},{"key":"ref25","doi-asserted-by":"publisher","DOI":"10.1086\/519174"},{"key":"ref26","doi-asserted-by":"publisher","DOI":"10.2337\/diabetes.54.10.2946"},{"key":"ref27","doi-asserted-by":"publisher","DOI":"10.1507\/endocrj.47.715"},{"key":"ref28","doi-asserted-by":"publisher","DOI":"10.2337\/diabetes.49.1.114"},{"key":"ref29","doi-asserted-by":"publisher","DOI":"10.1159\/000067842"},{"key":"ref30","doi-asserted-by":"publisher","DOI":"10.1038\/ncpendmet0368"},{"key":"ref31","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2004-1233"},{"key":"ref32","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2010.01476.x"}],"container-title":["Hormone Research in Paediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/356911","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/356911","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T18:23:00Z","timestamp":1745432580000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000356911"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014]]},"references-count":32,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2014,4,1]]},"published-print":{"date-parts":[[2014,4,14]]}},"URL":"https:\/\/doi.org\/10.1159\/000356911","archive":["Portico"],"relation":{},"ISSN":["1663-2818","1663-2826"],"issn-type":[{"type":"print","value":"1663-2818"},{"type":"electronic","value":"1663-2826"}],"subject":[],"published":{"date-parts":[[2014]]}}}