Hepatocyte Nuclear Factor 4⍺ Gene Mutation Associated with Familial Neonatal Hyperinsulinism and Maturity-Onset Diabetes of the Young - 02/08/11
Doi : 10.1016/j.jpeds.2011.01.003
Mia M. Pingul, MD a, Nkecha Hughes, MS c, Anthony Wu, MD b, Charles A. Stanley, MD c, Philip A. Gruppuso, MD a, ⁎ 
a Division of Pediatric Endocrinology and Metabolism, Rhode Island Hospital and Brown University, Providence, RI
b Division of General Internal Medicine, Rhode Island Hospital and Brown University, Providence, RI
c Division of Endocrinology/Diabetes, Children’s Hospital of Philadelphia, Philadelphia, PA
Reprint requests: Philip A. Gruppuso, MD, Department of Pediatrics, Rhode Island Hospital, 593 Eddy Street, Providence, RI 02903.Abstract |
Neonatal macrosomia and hyperinsulinemic hypoglycemia with strong family history of diabetes may indicate monogenic diabetes. Here we report a family in which 4 individuals in 3 generations were found to have a mutation (Arg80Gln) in hepatocyte nuclear factor 4⍺. Genetic testing was a factor in choosing sulfonylurea therapy for diabetes.
Le texte complet de cet article est disponible en PDF.Mots-clés : HbA1c, HNF4⍺, MODY
Plan
| The authors declare no conflicts of interest. |
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Vol 158 - N° 5
P. 852-854 - mai 2011 Retour au numéro
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