{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,14]],"date-time":"2026-05-14T23:42:32Z","timestamp":1778802152876,"version":"3.51.4"},"reference-count":13,"publisher":"BMJ","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Reports"],"accepted":{"date-parts":[[2015,3,9]]},"abstract":"<jats:p>A female patient was treated for type 1 diabetes following presentation at 12\u2005years of age with hyperglycaemia, polydipsia and weight loss. Eleven years later,\u00a0while screening relatives attending a genetic diabetes clinic, she was identified as potentially harbouring a mutation in the <jats:italic>hepatocyte nuclear factor 1A (HNF1A)<\/jats:italic> gene. Biochemical testing supported the diagnosis of HNF1A-maturity onset diabetes of the young (MODY) and genetic screening was positive for a heterozygous mutation in the <jats:italic>HNF1A<\/jats:italic> gene. The patient transitioned from insulin to sulfonylurea therapy. Three years later, in the setting of poor metabolic control, the patient presented to the emergency department with a history of nausea, vomiting and palpitations. A diagnosis of diabetic ketoacidosis (DKA) was confirmed and successfully treated. Although a diagnosis of HNF1A-MODY is rarely considered in a patient with a history of DKA, we demonstrate that DKA is possible in the setting of non-compliance with sulfonylurea therapy.<\/jats:p>","DOI":"10.1136\/bcr-2014-209163","type":"journal-article","created":{"date-parts":[[2015,4,2]],"date-time":"2015-04-02T11:47:38Z","timestamp":1427975258000},"page":"bcr2014209163","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":14,"title":["Diabetic ketoacidosis in the setting of HNF1A-maturity onset diabetes of the young"],"prefix":"10.1136","volume":"2015","author":[{"given":"Aoife M","family":"Egan","sequence":"first","affiliation":[{"name":"Department of Endocrinology and Diabetes Mellitus, Galway Diabetes Research Centre, Galway, Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aine","family":"Cunningham","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Diabetes Mellitus, Galway Diabetes Research Centre, Galway, Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bahram","family":"Jafar-Mohammadi","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Diabetes Mellitus, Galway Diabetes Research Centre, Galway, Ireland"},{"name":"King's College Hospital, London, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fidelma P","family":"Dunne","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Diabetes Mellitus, Galway Diabetes Research Centre, Galway, Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2015,4,2]]},"reference":[{"key":"2025082804415943000_2015.apr02_1.bcr2014209163.1","doi-asserted-by":"publisher","DOI":"10.7861\/clinmedicine.13-3-278"},{"key":"2025082804415943000_2015.apr02_1.bcr2014209163.2","doi-asserted-by":"publisher","DOI":"10.2337\/dc11-1243"},{"key":"2025082804415943000_2015.apr02_1.bcr2014209163.3","doi-asserted-by":"publisher","DOI":"10.2337\/diacare.28.7.1751"},{"key":"2025082804415943000_2015.apr02_1.bcr2014209163.4","doi-asserted-by":"publisher","DOI":"10.1038\/ncpendmet0778"},{"key":"2025082804415943000_2015.apr02_1.bcr2014209163.5","doi-asserted-by":"crossref","first-page":"E1067","DOI":"10.1210\/jc.2013-3641","article-title":"Reclassification of diabetes etiology in a family with multiple diabetes phenotypes","volume":"99","author":"Kavvoura","year":"2013","journal-title":"J Clin Endocrinol Metab"},{"key":"2025082804415943000_2015.apr02_1.bcr2014209163.6","first-page":"234","article-title":"Maturity onset diabetes of the young: clinical characteristics, diagnosis and management","volume":"10","author":"Kavvoura","year":"2012","journal-title":"Pediatr Endocrinol Rev"},{"key":"2025082804415943000_2015.apr02_1.bcr2014209163.7","doi-asserted-by":"publisher","DOI":"10.2337\/dc13-0058"},{"issue":"(Suppl 12)","key":"2025082804415943000_2015.apr02_1.bcr2014209163.8","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1111\/j.1399-5448.2009.00571.x","article-title":"The diagnosis and management of monogenic diabetes in children and adolescents","volume":"10","author":"Hattersley","year":"2009","journal-title":"Pediatr Diabetes"},{"key":"2025082804415943000_2015.apr02_1.bcr2014209163.9","doi-asserted-by":"publisher","DOI":"10.2337\/diab.46.6.1081"},{"key":"2025082804415943000_2015.apr02_1.bcr2014209163.10","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(03)14571-0"},{"key":"2025082804415943000_2015.apr02_1.bcr2014209163.11","doi-asserted-by":"publisher","DOI":"10.2337\/diacare.26.11.3191"},{"key":"2025082804415943000_2015.apr02_1.bcr2014209163.12","doi-asserted-by":"publisher","DOI":"10.7861\/clinmedicine.4-2-144"},{"key":"2025082804415943000_2015.apr02_1.bcr2014209163.13","doi-asserted-by":"publisher","DOI":"10.2337\/dc09-9032"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2014-209163","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T11:42:07Z","timestamp":1756381327000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2014-209163"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,4,2]]},"references-count":13,"alternative-id":["10.1136\/bcr-2014-209163"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2014-209163","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,4,2]]}}}