{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T07:27:58Z","timestamp":1777534078224,"version":"3.51.4"},"reference-count":37,"publisher":"S. Karger AG","issue":"5","license":[{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"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":[[2022]]},"abstract":"<b><i>Introduction:<\/i><\/b> Heterozygous activating mutations in <i>KCNJ11<\/i> cause both permanent and transient neonatal diabetes. A minority of patients also have neurological features. Early genetic diagnosis has important therapeutic implications as treatment with sulfonylurea provides good metabolic control and exerts a protective effect on neuromuscular function. <b><i>Case Presentation:<\/i><\/b> A term female infant with normal birth weight (2.73 kg, z-score: \u22121.69) was admitted to the Neonatal Unit at Addenbrookes Hospital. She had been antenatally diagnosed with KCNJ<i>11<\/i> mutation-R201C inherited from her glibenclamide-treated mother who continued sulfonylurea treatment throughout pregnancy. A continuous glucose-monitoring system inserted at 20 h of age showed progressive rise of blood glucose concentrations, prompting treatment with glibenclamide on day 2 of life. Initial attempts to treat with an extemporaneous solution of glibenclamide (starting dose 0.2 mg\/kg\/day) resulted in inconsistent response and significant hypoglycaemia and hyperglycaemia. A licenced liquid formulation of glibenclamide (AMGLIDIA) at a starting dose of 0.05 mg\/kg\/day was used with stabilization of blood glucose profile within 24 h. Other than a mild transient elevation in transaminase, treatment was well tolerated. At most recent review (age 12 months), the patient remains well with age-appropriate neurodevelopment. Overall glucose control is reasonable with estimated HbA1c of 7.6% (59.9 mmol\/mol). <b><i>Conclusion:<\/i><\/b> Early postnatal glibenclamide treatment of insulin-naive patients with KATP-dependent neonatal diabetes is safe, provides good metabolic control, and has a potential protective effect on neurological function. The formulation of the medicine needs to be carefully considered in the context of the very small doses required in this age group. <\/jats:p>","DOI":"10.1159\/000525989","type":"journal-article","created":{"date-parts":[[2022,7,11]],"date-time":"2022-07-11T21:00:31Z","timestamp":1657573231000},"page":"476-483","source":"Crossref","is-referenced-by-count":5,"title":["Early Postnatal Use of Glibenclamide in Permanent Neonatal Diabetes Secondary to Antenatally Diagnosed <b><i>KJCN11<\/i><\/b> Mutation"],"prefix":"10.1159","volume":"95","author":[{"given":"Sandra","family":"Walton-Betancourth","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jennifer","family":"Ashford","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kathy","family":"Beardsall","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nigel","family":"Gooding","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eleanor M.","family":"Gurnell","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emile","family":"Hendriks","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Helen","family":"Hysted","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jenny","family":"Lee","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6290-3553","authenticated-orcid":false,"given":"Ajay","family":"Thankamony","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xanthippi","family":"Tseretopoulou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Myat","family":"Win","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0426-9632","authenticated-orcid":false,"given":"Rachel M.","family":"Williams","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2022,7,11]]},"reference":[{"key":"ref1"},{"key":"ref2"},{"key":"ref3"},{"key":"ref4"},{"key":"ref5"},{"key":"ref6"},{"key":"ref7"},{"key":"ref8"},{"key":"ref9"},{"key":"ref10"},{"key":"ref11"},{"key":"ref12"},{"key":"ref13"},{"key":"ref14"},{"key":"ref15"},{"key":"ref16"},{"key":"ref17"},{"key":"ref18"},{"key":"ref19"},{"key":"ref20"},{"key":"ref21"},{"key":"ref22"},{"key":"ref23"},{"key":"ref24"},{"key":"ref25"},{"key":"ref26"},{"key":"ref27"},{"key":"ref28"},{"key":"ref29"},{"key":"ref30"},{"key":"ref31"},{"key":"ref32"},{"key":"ref33"},{"key":"ref34"},{"key":"ref35"},{"key":"ref36"},{"key":"ref37"}],"container-title":["Hormone Research in Paediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/525989","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/525989","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T15:11:29Z","timestamp":1745421089000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000525989"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022]]},"references-count":37,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2022,11,11]]},"published-print":{"date-parts":[[2022,11,17]]}},"URL":"https:\/\/doi.org\/10.1159\/000525989","archive":["Portico"],"relation":{},"ISSN":["1663-2818","1663-2826"],"issn-type":[{"value":"1663-2818","type":"print"},{"value":"1663-2826","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022]]}}}