Neonatal diabetes caused by the heterozygous Pro1198Leu mutation in the ABCC8 gene in a male infant: 6-year clinical course.
ABCC8 gene
Neonatal diabetes
Sulfonylurea receptor 1
Journal
Journal of diabetes investigation
ISSN: 2040-1124
Titre abrégé: J Diabetes Investig
Pays: Japan
ID NLM: 101520702
Informations de publication
Date de publication:
Mar 2020
Mar 2020
Historique:
received:
29
05
2019
revised:
01
08
2019
accepted:
05
08
2019
pubmed:
8
8
2019
medline:
24
11
2020
entrez:
8
8
2019
Statut:
ppublish
Résumé
Neonatal diabetes is a rare disease, often caused by a monogenic abnormality. A male infant patient developed diabetic ketoacidosis at 2 months-of-age due to the heterozygous ABCC8 gene mutation (p.Pro1198Leu). After genetic diagnosis, insulin therapy was successfully transitioned to oral sulfonylurea therapy. For >6 years, oral sulfonylurea therapy has been safe and effective, and the required amount of sulfonylureas has progressively decreased. The mutation was transmitted in an autosomal-dominant fashion across three generations of his family, but the severity of diabetes varied among members from neonatal diabetes to mild diabetes. One family member had normal glucose tolerance despite having the mutation. This case presentation could help in the understanding of neonatal diabetes caused by the ABCC8 gene mutation.
Identifiants
pubmed: 31390154
doi: 10.1111/jdi.13127
pmc: PMC7078085
doi:
Substances chimiques
ABCC8 protein, human
0
Glycated Hemoglobin A
0
Hypoglycemic Agents
0
Insulin
0
Sulfonylurea Receptors
0
hemoglobin A1c protein, human
0
Glyburide
SX6K58TVWC
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Pagination
502-505Subventions
Organisme : Japan Society for the Promotion of Science
ID : JP17K09842
Informations de copyright
© 2019 The Authors. Journal of Diabetes Investigation published by Asian Association for the Study of Diabetes (AASD) and John Wiley & Sons Australia, Ltd.
Références
J Diabetes Investig. 2011 Jun 5;2(3):158-69
pubmed: 24843477
J Clin Res Pediatr Endocrinol. 2012 Jun;4(2):107-10
pubmed: 22672870
Diabetes Care. 2008 Feb;31(2):204-9
pubmed: 18025408
Diabetes Care. 2012 Feb;35(2):248-51
pubmed: 22210575
N Engl J Med. 2006 Aug 3;355(5):456-66
pubmed: 16885549
J Diabetes Investig. 2013 May 6;4(3):269-73
pubmed: 24843665
Diabetes Care. 2009 Aug;32(8):1428-30
pubmed: 19435956
Science. 1995 Nov 17;270(5239):1166-70
pubmed: 7502040
Pediatr Diabetes. 2014 Sep;15 Suppl 20:47-64
pubmed: 25182307
Diabetes. 2007 Jul;56(7):1930-7
pubmed: 17446535