Neonatal diabetes caused by the heterozygous Pro1198Leu mutation in the ABCC8 gene in a male infant: 6-year clinical course

Journal of Diabetes Investigation
Shinsuke UrakiTakashi Akamizu

Abstract

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.

References

Aug 4, 2006·The New England Journal of Medicine·Andrey P BabenkoPhilippe Froguel
Nov 21, 2007·Diabetes Care·Meena RafiqUNKNOWN Neonatal Diabetes International Collaborative Group
Jan 3, 2012·Diabetes Care·Jean-Pierre RivelineMartine Vaxillaire
Jun 8, 2012·Journal of Clinical Research in Pediatric Endocrinology·Banu Kücükemre AydinFeyza Darendeliler
Jun 5, 2011·Journal of Diabetes Investigation·Rochelle N NaylorLouis H Philipson
Sep 4, 2014·Pediatric Diabetes·Oscar Rubio-CabezasUNKNOWN International Society for Pediatric and Adolescent Diabetes

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Methods Mentioned

BETA
exome sequencing

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