{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T20:43:30Z","timestamp":1791924210486,"version":"4.3.4"},"reference-count":30,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2019,10,21]],"date-time":"2019-10-21T00:00:00Z","timestamp":1571616000000},"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":["Diabet. Med."],"published-print":{"date-parts":[[2020,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Aims<\/jats:title><jats:p>To examine the phenotypic features of people identified with <jats:styled-content style=\"fixed-case\">ABCC<\/jats:styled-content>8\u2010maturity\u2010onset diabetes of the young (<jats:styled-content style=\"fixed-case\">MODY<\/jats:styled-content>) who were included in the adult \u2018Mater <jats:styled-content style=\"fixed-case\">MODY<\/jats:styled-content>\u2019 cohort and to establish their response to sulfonylurea therapy.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Ten participants with activating <jats:italic><jats:styled-content style=\"fixed-case\">ABCC<\/jats:styled-content>8<\/jats:italic> mutations were phenotyped in detail. A 2\u2010hour oral glucose tolerance test was performed to establish glycaemic tolerance, with glucose, insulin and C\u2010peptide measurements taken at baseline and 30\u2010min intervals. Insulin was discontinued and sulfonylurea therapy initiated after genetic diagnosis of <jats:styled-content style=\"fixed-case\">ABCC<\/jats:styled-content>8\u2010<jats:styled-content style=\"fixed-case\">MODY<\/jats:styled-content>. A blinded continuous glucose monitoring sensor was used to establish glycaemic control on insulin vs a sulfonylurea.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The mean age at diagnosis of diabetes was 33.8 \u00b1 11.1 years, with fasting glucose of 18.9 \u00b1 11.5 mmol\/l and a mean (range) HbA<jats:sub>1c<\/jats:sub> of 86 (51,126) mmol\/mol [10.0 (6.8,13.7)%]. Following a genetic diagnosis of\u00a0<jats:styled-content style=\"fixed-case\">ABCC<\/jats:styled-content>8\u2010<jats:styled-content style=\"fixed-case\">MODY<\/jats:styled-content> three out of four participants discontinued insulin (mean duration 10.6 \u00b1 1.69 years) and started sulfonylurea treatment. The mean (range) HbA<jats:sub>1c<\/jats:sub> prior to genetic diagnosis was 52 (43,74) mmol\/mol (6.9%) and the post\u2010treatment change was 44 (30,57) mmol\/mol (6.2%; <jats:italic>P<\/jats:italic>=0.16). Retinopathy was the most common microvascular complication in this cohort, occurring in five out of 10 participants.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Low\u2010dose sulfonylurea therapy resulted in stable glycaemic control and the elimination of hypoglycaemic episodes attributable to insulin therapy. The use of appropriate therapy at the early stages of diabetes may decrease the incidence of complications and reduce the risks of hypoglycaemia associated with insulin therapy.<\/jats:p><\/jats:sec>","DOI":"10.1111\/dme.14145","type":"journal-article","created":{"date-parts":[[2019,9,28]],"date-time":"2019-09-28T22:06:51Z","timestamp":1569708411000},"page":"876-884","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":19,"title":["Phenotype, genotype and glycaemic variability in people with activating mutations in the <i><scp>ABCC<\/scp>8<\/i> gene: response to appropriate therapy"],"prefix":"10.1111","volume":"37","author":[{"given":"F.","family":"Reilly","sequence":"first","affiliation":[{"name":"Department of Diabetes and Endocrinology Mater Misericordiae University Hospital Dublin Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4352-9655","authenticated-orcid":false,"given":"B.","family":"Sanchez\u2010Lechuga","sequence":"additional","affiliation":[{"name":"Department of Diabetes and Endocrinology Mater Misericordiae University Hospital Dublin Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Clinton","sequence":"additional","affiliation":[{"name":"Department of Diabetes and Endocrinology Mater Misericordiae University Hospital Dublin Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Crowe","sequence":"additional","affiliation":[{"name":"Department of Diabetes and Endocrinology Mater Misericordiae University Hospital Dublin Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Burke","sequence":"additional","affiliation":[{"name":"Department of Diabetes and Endocrinology Mater Misericordiae University Hospital Dublin Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N.","family":"Ng","sequence":"additional","affiliation":[{"name":"Department of Diabetes and Endocrinology Mater Misericordiae University Hospital Dublin Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"Colclough","sequence":"additional","affiliation":[{"name":"Department of Molecular Genetics Royal Devon and Exeter NHS Foundation Trust Exeter UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. 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