{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,28]],"date-time":"2026-10-28T02:49:17Z","timestamp":1793155757632,"version":"4.5.0"},"reference-count":67,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2020,10,27]],"date-time":"2020-10-27T00:00:00Z","timestamp":1603756800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81600649"],"award-info":[{"award-number":["81600649"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Journal of Diabetes"],"published-print":{"date-parts":[[2021,1]]},"abstract":"<jats:p>The <jats:italic>KCNJ11<\/jats:italic> gene encodes the Kir6.2 subunit of the adenosine triphosphate\u2010sensitive potassium (K<jats:sub>ATP<\/jats:sub>) channel, which plays a key role in insulin secretion. Monogenic diseases caused by <jats:italic>KCNJ11<\/jats:italic> gene mutation are rare and easily misdiagnosed. It has been shown that mutations in the <jats:italic>KCNJ11<\/jats:italic> gene are associated with neonatal diabetes mellitus (NDM), maturity\u2010onset diabetes of the young 13 (MODY13), type 2 diabetes mellitus (T2DM), and hyperinsulinemic hypoglycemia. We report four patients with <jats:italic>KCNJ11<\/jats:italic> gene mutations and provide a systematic review of the literature. A boy with diabetes onset at the age of 1\u2009month was misdiagnosed as type 1 diabetes mellitus (T1DM) for 12\u2009years and received insulin therapy continuously, resulting in poor glycemic control. He was diagnosed as NDM with <jats:italic>KCNJ11<\/jats:italic> E322K gene mutation, and glibenclamide was given to replace exogenous insulin. The successful transfer time was 4\u2009months, much longer than the previous unsuccessful standard of 4\u2009weeks. The other three patients were two sisters and their mother; the younger sister was misdiagnosed with T1DM at 13\u2009years old, while the elder sister was diagnosed with diabetes (type undefined) at 16\u2009years old. They were treated with insulin for 3\u2009years, with poor glycemic control. Their mother was diagnosed with T2DM and achieved good glycemia control with glimepiride. They were diagnosed as MODY13 because of the autosomal dominant inheritance of two generations, early onset of diabetes before 25\u2009years of age in the two sisters, and the presence of the <jats:italic>KCNJ11<\/jats:italic> N48D gene mutation. All patients successfully transferred to sulfonylureas with excellent glycemic control. Therefore, the wide spectrum of clinical phenotypes of glucose dysmetabolism caused by <jats:italic>KCNJ11<\/jats:italic> should be recognized to reduce misdiagnosis and implement appropriate treatment.<\/jats:p>","DOI":"10.1111\/1753-0407.13114","type":"journal-article","created":{"date-parts":[[2020,9,27]],"date-time":"2020-09-27T11:28:07Z","timestamp":1601206087000},"page":"19-32","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":18,"title":["Continuous spectrum of glucose dysmetabolism due to the <scp><i>KCNJ11<\/i><\/scp> gene mutation\u2014Case reports and review of the literature"],"prefix":"10.1111","volume":"13","author":[{"given":"Binbin","family":"He","sequence":"first","affiliation":[{"name":"Department of Metabolism and Endocrinology, The Second Xiangya Hospital Central South University  Changsha China"},{"name":"Key Laboratory of Diabetes Immunology (Central South University) Ministry of Education; National 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