{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T14:17:35Z","timestamp":1784557055342,"version":"3.55.0"},"reference-count":20,"publisher":"Bioscientifica","license":[{"start":{"date-parts":[[2018,4,11]],"date-time":"2018-04-11T00:00:00Z","timestamp":1523404800000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/3.0\/deed.en_GB"}],"content-domain":{"domain":["edm.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2018,4,11]]},"abstract":"<jats:title>Summary<\/jats:title>\n                  <jats:p>\n                    We report a case of a woman with diabetes mellitus caused by a genetic defect in\n                    <jats:italic>ABCC8<\/jats:italic>\n                    -coding sulfonylurea receptor 1 (SUR1), a subunit of the ATP-sensitive potassium (K\n                    <jats:sub>ATP<\/jats:sub>\n                    ) channel protein. She was diagnosed with diabetes at 7 days after birth. After intravenous insulin drip for 1 month, her hyperglycaemia remitted. At the age of 13 years, her diabetes relapsed, and after that she had been treated by intensive insulin therapy for 25 years with relatively poor glycaemic control. She was switched to oral sulfonylurea therapy and attained euglycaemia. In addition, her insulin secretory capacity was ameliorated gradually.\n                  <\/jats:p>\n                  <jats:sec>\n                    <jats:title>Learning points:<\/jats:title>\n                    <jats:list list-type=\"bullet\">\n                      <jats:list-item>\n                        <jats:p>Genetic testing should be considered in any individuals or family with diabetes that occurred within the first year or so of life.<\/jats:p>\n                      <\/jats:list-item>\n                      <jats:list-item>\n                        <jats:p>\n                          Sulfonylurea can achieve good glycaemic control in patients with K\n                          <jats:sub>ATP<\/jats:sub>\n                          channel mutations by restoring endogenous insulin secretion, even if they were treated with insulin for decades.\n                        <\/jats:p>\n                      <\/jats:list-item>\n                      <jats:list-item>\n                        <jats:p>\n                          Early screening and genetic testing are important to improve the prognosis of patients with neonatal diabetes mellitus arising from\n                          <jats:italic>ABCC8<\/jats:italic>\n                          or\n                          <jats:italic>KCNJ11<\/jats:italic>\n                          mutation.\n                        <\/jats:p>\n                      <\/jats:list-item>\n                    <\/jats:list>\n                  <\/jats:sec>","DOI":"10.1530\/edm-18-0005","type":"journal-article","created":{"date-parts":[[2018,4,12]],"date-time":"2018-04-12T11:01:09Z","timestamp":1523530869000},"update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-2","source":"Crossref","is-referenced-by-count":1,"title":["A case with relapsed transient neonatal diabetes mellitus treated with sulfonylurea, ending chronic insulin requirement"],"prefix":"10.1530","volume":"2018","author":[{"given":"Akihiko","family":"Ando","sequence":"first","affiliation":[{"name":"1Division of Endocrinology and Metabolism, Department of Internal Medicine, Jichi Medical University, Tochigi, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shoichiro","family":"Nagasaka","sequence":"additional","affiliation":[{"name":"1Division of Endocrinology and Metabolism, Department of Internal Medicine, Jichi Medical University, Tochigi, Japan"},{"name":"2Division of Diabetes, Metabolism and Endocrinology, Department of Internal Medicine, Showa University Fujigaoka Hospital, Kanagawa Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shun","family":"Ishibashi","sequence":"additional","affiliation":[{"name":"1Division of Endocrinology and Metabolism, Department of Internal Medicine, Jichi Medical University, Tochigi, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"416","reference":[{"key":"ref81","doi-asserted-by":"crossref","first-page":"1162","DOI":"10.1007\/s00125-016-3921-8","article-title":"Successful transfer to sulfonylureas in KCNJ11 neonatal diabetes is determined by the mutation and duration of diabetes.","volume":"59","year":"2016","journal-title":"Diabetologia"},{"key":"ref01","doi-asserted-by":"crossref","first-page":"957","DOI":"10.1016\/S0140-6736(15)60098-8","article-title":"The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study.","volume":"386","year":"2015","journal-title":"Lancet"},{"key":"ref31","doi-asserted-by":"crossref","first-page":"220","DOI":"10.1002\/humu.20292","article-title":"Mutations in the genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2(KCN11) and SUR(ABCC8) in diabetes mellitus and hyperinsulinemia","volume":"27","year":"2006","journal-title":"Human Mutation"},{"key":"ref141","doi-asserted-by":"crossref","first-page":"1793","DOI":"10.1093\/hmg\/ddl101","article-title":"A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes","volume":"15","year":"2006","journal-title":"Human Molecular Genetics"},{"key":"ref41","doi-asserted-by":"crossref","first-page":"1793","DOI":"10.1093\/hmg\/ddl101","article-title":"A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes","volume":"15","year":"2006","journal-title":"Human Molecular Genetics"},{"key":"ref51","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1111\/j.1463-1326.2007.00772.x","article-title":"Mutations in the ABCC8 gene encoding the SUR1 subunit of the K ATP channel cause transient neonatal diabetes, permanent neonatal diabetes or permanent diabetes diagnosed outside the neonatal period","volume":"9","year":"2007","journal-title":"Diabetes, Obesity and Metabolism"},{"key":"ref101","doi-asserted-by":"crossref","first-page":"957","DOI":"10.1016\/S0140-6736(15)60098-8","article-title":"The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study.","volume":"386","year":"2015","journal-title":"Lancet"},{"key":"ref161","first-page":"56","article-title":"Sulfonylurea-responsive neonatal diabetes mellitus diagnosed through molecular genetics in two children and in one adult after a long period of insulin treatment.","volume":"83","year":"2012","journal-title":"Acta Biomed"},{"key":"ref61","first-page":"56","article-title":"Sulfonylurea-responsive neonatal diabetes mellitus diagnosed through molecular genetics in two children and in one adult after a long period of insulin treatment.","volume":"83","year":"2012","journal-title":"Acta Biomed"},{"key":"ref111","doi-asserted-by":"crossref","first-page":"202","DOI":"10.1016\/j.diabres.2004.10.005","article-title":"Influence of exogenous insulin on C-peptide levels in subjects with type 2 diabetes.","volume":"68","year":"2005","journal-title":"Diabetes Research and Clinical Practice"},{"key":"ref121","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1111\/j.2040-1124.2010.00096.x","article-title":"Utility of indices using C-peptide levels for indication of insulin therapy to achieve good glycemic control in Japanese patients with type 2 diabetes.","volume":"2","year":"2011","journal-title":"Journal of Diabetes Investigation"},{"key":"ref71","doi-asserted-by":"crossref","first-page":"204","DOI":"10.2337\/dc07-1785","article-title":"Effective treatment with oral sulfonylureas in patients with diabetes due to sulfonylurea receptor 1 (SUR1) mutations.","volume":"31","year":"2008","journal-title":"Diabetes Care"},{"key":"ref181","doi-asserted-by":"crossref","first-page":"1162","DOI":"10.1007\/s00125-016-3921-8","article-title":"Successful transfer to sulfonylureas in KCNJ11 neonatal diabetes is determined by the mutation and duration of diabetes.","volume":"59","year":"2016","journal-title":"Diabetologia"},{"key":"ref151","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1111\/j.1463-1326.2007.00772.x","article-title":"Mutations in the ABCC8 gene encoding the SUR1 subunit of the K ATP channel cause transient neonatal diabetes, permanent neonatal diabetes or permanent diabetes diagnosed outside the neonatal period","volume":"9","year":"2007","journal-title":"Diabetes, Obesity and Metabolism"},{"key":"ref131","doi-asserted-by":"crossref","first-page":"220","DOI":"10.1002\/humu.20292","article-title":"Mutations in the genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2(KCN11) and SUR(ABCC8) in diabetes mellitus and hyperinsulinemia","volume":"27","year":"2006","journal-title":"Human Mutation"},{"key":"ref11","doi-asserted-by":"crossref","first-page":"202","DOI":"10.1016\/j.diabres.2004.10.005","article-title":"Influence of exogenous insulin on C-peptide levels in subjects with type 2 diabetes.","volume":"68","year":"2005","journal-title":"Diabetes Research and Clinical Practice"},{"key":"ref21","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1111\/j.2040-1124.2010.00096.x","article-title":"Utility of indices using C-peptide levels for indication of insulin therapy to achieve good glycemic control in Japanese patients with type 2 diabetes.","volume":"2","year":"2011","journal-title":"Journal of Diabetes Investigation"},{"key":"ref191","doi-asserted-by":"publisher","first-page":"200489","DOI":"10.1136\/adc.2003.030502","article-title":"An assessment of pancreatic endocrine function and insulin sensitivity in patients with transient neonatal diabetes in remission of Disease in Childhood Fetal and https org","journal-title":"Archives Neonatal Edition"},{"key":"ref171","doi-asserted-by":"crossref","first-page":"204","DOI":"10.2337\/dc07-1785","article-title":"Effective treatment with oral sulfonylureas in patients with diabetes due to sulfonylurea receptor 1 (SUR1) mutations.","volume":"31","year":"2008","journal-title":"Diabetes Care"},{"key":"ref91","doi-asserted-by":"publisher","first-page":"200489","DOI":"10.1136\/adc.2003.030502","article-title":"An assessment of pancreatic endocrine function and insulin sensitivity in patients with transient neonatal diabetes in remission of Disease in Childhood Fetal and https org","journal-title":"Archives Neonatal Edition"}],"container-title":["Endocrinology, Diabetes &amp; Metabolism Case Reports"],"original-title":[],"link":[{"URL":"https:\/\/edm.bioscientifica.com\/view\/journals\/edm\/2018\/1\/EDM18-0005.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/edm.bioscientifica.com\/downloadpdf\/journals\/edm\/2018\/1\/EDM18-0005.xml","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T13:46:49Z","timestamp":1784555209000},"score":1,"resource":{"primary":{"URL":"http:\/\/journals.bioscientifica.com\/edm\/article\/3368"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,4,11]]},"references-count":20,"URL":"https:\/\/doi.org\/10.1530\/edm-18-0005","relation":{},"ISSN":["2052-0573"],"issn-type":[{"value":"2052-0573","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,4,11]]}}}