{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,3]],"date-time":"2025-09-03T12:22:34Z","timestamp":1756902154758,"version":"3.44.0"},"reference-count":12,"publisher":"The Pediatric Pharmacy Association","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,2]]},"abstract":"<jats:p>Sulfonylurea treatment has been shown to improve both glycemic control and neurodevelopmental outcomes in neonatal diabetes (NDM) secondary to <jats:italic>ABCC8<\/jats:italic> gene mutations. Given these mutations are among the most common, an empiric sulfonylurea trial may be reasonable. We report a case of NDM secondary to an <jats:italic>ABCC8<\/jats:italic> mutation in an infant born at 34 6\/7 weeks gestational age (GA) who was transitioned to oral sulfonylurea therapy at 38 2\/7 weeks corrected GA. Empiric oral sulfonylurea therapy was initiated while genetic testing was pending, which later confirmed the diagnosis of monogenic NDM. Empiric transition to sulfonylurea therapy in a preterm infant with monogenic NDM is described for the first time in the literature. Furthermore, this report offers possible guidance relating to initial sulfonylurea dose at initiation and the utility of additional genetic testing in family members.<\/jats:p>","DOI":"10.5863\/1551-6776-30.1.129","type":"journal-article","created":{"date-parts":[[2025,4,21]],"date-time":"2025-04-21T14:25:19Z","timestamp":1745245519000},"page":"129-132","source":"Crossref","is-referenced-by-count":1,"title":["Monogenic Familial Neonatal Diabetes in Preterm Infant With ABCC8 Gene Mutation: Transition to Oral Sulfonylurea Therapy"],"prefix":"10.5863","volume":"30","author":[{"given":"Elizabeth","family":"Behre","sequence":"first","affiliation":[{"name":"Division of Endocrinology (EB), Seattle Children\u2019s Hospital"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sierra S.","family":"Donnell","sequence":"additional","affiliation":[{"name":"Division of Hospital-Based Medicine (SD), Ann and Robert H. Lurie Children\u2019s Hospital of Chicago"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicole","family":"Larsen","sequence":"additional","affiliation":[{"name":"Department of Pediatrics (NL), Division of Neonatal-Perinatal Medicine, University of Michigan C.S. Mott Children\u2019s Hospital"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guido","family":"Mora","sequence":"additional","affiliation":[{"name":"Division of Endocrinology (GM), Ann and Robert H. Lurie Children\u2019s Hospital of Chicago"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kousiki","family":"Patra","sequence":"additional","affiliation":[{"name":"Department of Pediatrics (KP), Division of Neonatology, Rush University Medical Center"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"3883","reference":[{"issue":"(12)","key":"i2331-348X-30-1-129-b01","series-title":"Eur J Pediatr","first-page":"944","article-title":"Transient and permanent neonatal diabetes","volume":"154","author":"F\u00f6sel","year":"1995","unstructured":"F\u00f6sel S. Transient and permanent neonatal diabetes. Eur J Pediatr. 1995;154(12):944\u2013948."},{"issue":"(1)","key":"i2331-348X-30-1-129-b02","series-title":"Clin Perinatol","first-page":"41","article-title":"Neonatal diabetes mellitus: an update on diagnosis and management","volume":"45","author":"Lemelman","year":"2018","unstructured":"Lemelman MB, Letourneau L, Greeley SAW. Neonatal diabetes mellitus: an update on diagnosis and management. Clin Perinatol. 2018;45(1):41\u201359."},{"issue":"(12)","key":"i2331-348X-30-1-129-b03","series-title":"J Clin Endocrinol Metab","first-page":"2709","article-title":"Sulfonylurea treatment before genetic testing in neonatal diabetes: pros and cons","volume":"99","author":"Carmody","year":"2014","unstructured":"Carmody D, Bell CD, Hwang JL, et al. Sulfonylurea treatment before genetic testing in neonatal diabetes: pros and cons. J Clin Endocrinol Metab. 2014;99(12):2709."},{"key":"i2331-348X-30-1-129-b04","series-title":"Orphanet J Rare Dis","first-page":"12","article-title":"Neonatal diabetes mellitus: a disease linked to multiple mechanisms","volume":"2","author":"Polak","year":"2007","unstructured":"Polak M, Cav\u00e9 H. Neonatal diabetes mellitus: a disease linked to multiple mechanisms. Orphanet J Rare Dis.  2007;2:12."},{"issue":"(4)","key":"i2331-348X-30-1-129-b05","series-title":"Pediatr Diabetes","first-page":"482","article-title":"Phenotypic variability in two siblings with monogenic diabetes due to the same ABCC8 gene mutation","volume":"20","author":"Cattoni","year":"2019","unstructured":"Cattoni A, Jackson C, Bain M, et al. Phenotypic variability in two siblings with monogenic diabetes due to the same ABCC8 gene mutation. Pediatr Diabetes.  2019;20(4):482\u2013485."},{"issue":"(2)","key":"i2331-348X-30-1-129-b06","series-title":"J Pediatr Endocrinol Metab","first-page":"273","article-title":"Transient neonatal diabetes due to a disease causing novel variant in the ATP-binding cassette subfamily C member 8 (ABCC8) gene unmasks maturity-onset diabetes of the young (MODY) diabetes cases within a family","volume":"34","author":"Giannopoulou","year":"2020","unstructured":"Giannopoulou EZ, Ovcarov O, De Franco E, et al. Transient neonatal diabetes due to a disease causing novel variant in the ATP-binding cassette subfamily C member 8 (ABCC8) gene unmasks maturity-onset diabetes of the young (MODY) diabetes cases within a family. J Pediatr Endocrinol Metab. 2020;34(2):273\u2013276."},{"issue":"(2)","key":"i2331-348X-30-1-129-b07","series-title":"Diabetes Metab","first-page":"179","article-title":"A novel ABCC8 mutation illustrates the variability of the diabetes phenotypes associated with a single mutation","volume":"38","author":"Klee","year":"2012","unstructured":"Klee P, Bellann\u00e9-Chantelot C, Depret G, et al. A novel ABCC8 mutation illustrates the variability of the diabetes phenotypes associated with a single mutation. Diabetes Metab. 2012;38(2):179\u2013182."},{"issue":"(1)","key":"i2331-348X-30-1-129-b08","series-title":"Diabetes Care","first-page":"35","article-title":"Long-term follow-up of glycemic and neurological outcomes in an international series of patients with sulfonylurea-treated ABCC8 permanent neonatal diabetes","volume":"44","author":"Bowman","year":"2021","unstructured":"Bowman P, Mathews F, Barbetti F, et al. Long-term follow-up of glycemic and neurological outcomes in an international series of patients with sulfonylurea-treated ABCC8 permanent neonatal diabetes. Diabetes Care. 2021;44(1):35\u201342."},{"issue":"(11)","key":"i2331-348X-30-1-129-b09","series-title":"Diabetes Care","first-page":"2033","article-title":"Sulfonylurea therapy benefits neurological and psychomotor functions in patients with neonatal diabetes owing to potassium channel mutations","volume":"38","author":"Beltrand","year":"2015","unstructured":"Beltrand J, Elie C, Busiah K, et al. Sulfonylurea therapy benefits neurological and psychomotor functions in patients with neonatal diabetes owing to potassium channel mutations. Diabetes Care. 2015;38(11):2033\u20132041."},{"issue":"(4)","key":"i2331-348X-30-1-129-b10","series-title":"Pediatr Diabetes","first-page":"286","article-title":"Successful sulfonylurea treatment of an insulin-na\u00efve neonate with diabetes mellitus due to a KCNJ11 mutation","volume":"11","author":"Wambach","year":"2010","unstructured":"Wambach JA, Marshall BA, Koster JC, et al. Successful sulfonylurea treatment of an insulin-na\u00efve neonate with diabetes mellitus due to a KCNJ11 mutation. Pediatr Diabetes. 2010;11(4):286\u2013288."},{"issue":"(7)","key":"i2331-348X-30-1-129-b11","series-title":"J Diabetes","first-page":"542","article-title":"Genetic variants of ABCC8 and phenotypic features in Chinese early onset diabetes","volume":"13","author":"Li","year":"2021","unstructured":"Li M, Gong S, Han X, et al. Genetic variants of ABCC8 and phenotypic features in Chinese early onset diabetes. J Diabetes. 2021;13(7):542\u2013553."},{"issue":"(1)","key":"i2331-348X-30-1-129-b12","series-title":"BMC Med","first-page":"213","article-title":"Spectrum of mutations in monogenic diabetes genes identified from high-throughput DNA sequencing of 6888 individuals","volume":"15","author":"Bansal","year":"2017","unstructured":"Bansal V, Gassenhuber J, Phillips T, et al. Spectrum of mutations in monogenic diabetes genes identified from high-throughput DNA sequencing of 6888 individuals. BMC Med. 2017;15(1):213."}],"container-title":["The Journal of Pediatric Pharmacology and Therapeutics"],"original-title":[],"link":[{"URL":"https:\/\/jppt.kglmeridian.com\/view\/journals\/jppt\/30\/1\/article-p129.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/jppt.kglmeridian.com\/downloadpdf\/journals\/jppt\/30\/1\/article-p129.xml","content-type":"text\/html","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/jppt.kglmeridian.com\/downloadpdf\/journals\/jppt\/30\/1\/article-p129.xml","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,21]],"date-time":"2025-04-21T14:25:19Z","timestamp":1745245519000},"score":1,"resource":{"primary":{"URL":"https:\/\/jppt.kglmeridian.com\/view\/journals\/jppt\/30\/1\/article-p129.xml"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,2]]},"references-count":12,"journal-issue":{"issue":"1"},"URL":"https:\/\/doi.org\/10.5863\/1551-6776-30.1.129","relation":{},"ISSN":["2331-348X","1551-6776"],"issn-type":[{"type":"electronic","value":"2331-348X"},{"type":"print","value":"1551-6776"}],"subject":[],"published":{"date-parts":[[2025,2]]}}}