{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,5,15]],"date-time":"2024-05-15T14:22:39Z","timestamp":1715782959882},"reference-count":9,"publisher":"Walter de Gruyter GmbH","issue":"12","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2020,12,16]]},"abstract":"Abstract<\/jats:title>\n \n Objectives<\/jats:title>\n Neonatal diabetes mellitus (NDM) is a rare form of monogenic diabetes that is usually diagnosed in the first six months of life.<\/jats:p>\n <\/jats:sec>\n \n Case presentation<\/jats:title>\n We report on a male infant with neonatal diabetes who presented with diabetic ketoacidosis at two months and 16\u00a0days. A novel homozygous missense mutation (c.259T>G) was identified in the ABCC8<\/jats:italic> gene. In this case, insulin was replaced with glimepiride at a dosage of 0.49\u00a0mg\/kg\/day at five months, and this achieved metabolic control and satisfactory growth as observed at follow-up.<\/jats:p>\n <\/jats:sec>\n \n Conclusions<\/jats:title>\n This report improves our understanding of the mutational spectrum of ABCC8,<\/jats:italic> which is normally associated with NDM, and shows that the treatment regimen for this condition can be successfully switched from insulin therapy to the use of sulfonylurea.<\/jats:p>\n <\/jats:sec>","DOI":"10.1515\/jpem-2020-0030","type":"journal-article","created":{"date-parts":[[2020,10,10]],"date-time":"2020-10-10T23:48:48Z","timestamp":1602373728000},"page":"1605-1608","source":"Crossref","is-referenced-by-count":2,"title":["The use of glimepiride for the treatment of neonatal diabetes mellitus caused by a novel mutation of the ABCC8<\/i> gene"],"prefix":"10.1515","volume":"33","author":[{"given":"Xiao","family":"Qin","sequence":"first","affiliation":[{"name":"Department of Pediatrics , The First Affiliated Hospital of Guangxi Medical University , Nanning , Guangxi , China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jingzi","family":"Zhong","sequence":"additional","affiliation":[{"name":"Department of Pediatrics , The First Affiliated Hospital of Guangxi Medical University , Nanning , Guangxi , China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dan","family":"Lan","sequence":"additional","affiliation":[{"name":"Department of Pediatrics , The First Affiliated Hospital of Guangxi Medical University , Nanning , Guangxi , China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2020,10,9]]},"reference":[{"key":"2023040101094814678_j_jpem-2020-0030_ref_001_w2aab3b7b6b1b6b1ab2b2b1Aa","doi-asserted-by":"crossref","unstructured":"Iafusco, D, Massa, O, Pasquino, B, Colombo, C, Iughetti, L, Bizzarri, C, et al.. Minimal incidence of neonatal\/infancy onset diabetes in Italy is 1:90,000 live births. Acta Diabetol 2012;49:405\u20138. https:\/\/doi.org\/10.1007\/s00592-011-0331-8.","DOI":"10.1007\/s00592-011-0331-8"},{"key":"2023040101094814678_j_jpem-2020-0030_ref_002_w2aab3b7b6b1b6b1ab2b2b2Aa","doi-asserted-by":"crossref","unstructured":"Edghill, EL, Flanagan, SE, Ellard, S. Permanent neonatal diabetes due to activating mutations in ABCC8 and KCNJ11. Rev Endocr Metab Disord 2010;11:193\u20138. https:\/\/doi.org\/10.1007\/s11154-010-9149-x.","DOI":"10.1007\/s11154-010-9149-x"},{"key":"2023040101094814678_j_jpem-2020-0030_ref_003_w2aab3b7b6b1b6b1ab2b2b3Aa","doi-asserted-by":"crossref","unstructured":"Lemelman, MB, Letourneau, L, Greeley, SAW. Neonatal diabetes mellitus. Clin Perinatol 2018;45:41\u201359. https:\/\/doi.org\/10.1016\/j.clp.2017.10.006.","DOI":"10.1016\/j.clp.2017.10.006"},{"key":"2023040101094814678_j_jpem-2020-0030_ref_004_w2aab3b7b6b1b6b1ab2b2b4Aa","doi-asserted-by":"crossref","unstructured":"Babiker, T, Vedovato, N, Patel, K, Thomas, N, Finn, R, Mannikko, R, et al.. Successful transfer to sulfonylureas in KCNJ11 neonatal diabetes is determined by the mutation and duration of diabetes. Diabetologia 2016;59:1162\u20136. https:\/\/doi.org\/10.1007\/s00125-016-3921-8.","DOI":"10.1007\/s00125-016-3921-8"},{"key":"2023040101094814678_j_jpem-2020-0030_ref_005_w2aab3b7b6b1b6b1ab2b2b5Aa","doi-asserted-by":"crossref","unstructured":"Patch, AM, Flanagan, SE, Boustred, C, Hattersley, AT, Ellard, S. Mutations in the ABCC8 gene encoding the SUR1 subunit of the KATP channel cause transient neonatal diabetes, permanent neonatal diabetes or permanent diabetes diagnosed outside the neonatal period. Diabetes Obes Metabol 2007;9:28\u201339. https:\/\/doi.org\/10.1111\/j.1463-1326.2007.00772.x.","DOI":"10.1111\/j.1463-1326.2007.00772.x"},{"key":"2023040101094814678_j_jpem-2020-0030_ref_006_w2aab3b7b6b1b6b1ab2b2b6Aa","doi-asserted-by":"crossref","unstructured":"Day, JO, Flanagan, SE, Shepherd, MH, Patrick, AW, Abid, N, Torrens, L, et al.. Hyperglycaemia\u2010related complications at the time of diagnosis can cause permanent neurological disability in children with neonatal diabetes. Diabet Med 2017;34:1000\u20134. https:\/\/doi.org\/10.1111\/dme.13328.","DOI":"10.1111\/dme.13328"},{"key":"2023040101094814678_j_jpem-2020-0030_ref_007_w2aab3b7b6b1b6b1ab2b2b7Aa","doi-asserted-by":"crossref","unstructured":"Ortiz, D, Bryan, J. Neonatal diabetes and congenital hyperinsulinism caused by mutations in ABCC8\/SUR1 are associated with altered and opposite affinities for ATP and ADP. Front Endocrinol 2015;6:48. https:\/\/doi.org\/10.3389\/fendo.2015.00048.","DOI":"10.3389\/fendo.2015.00048"},{"key":"2023040101094814678_j_jpem-2020-0030_ref_008_w2aab3b7b6b1b6b1ab2b2b8Aa","doi-asserted-by":"crossref","unstructured":"Balamurugan, K, Kavitha, B, Yang, Z, Mohan, V, Radha, V, Shyng, SL. Functional characterization of activating mutations in the sulfonylurea receptor 1 (ABCC8) causing neonatal diabetes mellitus in Asian Indian children. Pediatr Diabetes 2019;20:397\u2013407. https:\/\/doi.org\/10.1111\/pedi.12843.","DOI":"10.1111\/pedi.12843"},{"key":"2023040101094814678_j_jpem-2020-0030_ref_009_w2aab3b7b6b1b6b1ab2b2b9Aa","doi-asserted-by":"crossref","unstructured":"Proks, P, Arnold, AL, Bruining, J, Girard, C, Flanagan, SE, Larkin, B, et al.. A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes. 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