Abstract
The hot spot mutation P291fsinsC was identified for the first time in a 26 years old Tunisian woman. The low serum level of high C-reactive protein was helpful to target the HNF1A gene. Due to the molecular diagnosis, the change from insulin to sulfonylurea therapy was performed successfully.
Keywords:
HNF1A-MODY; Molecular diagnosis; Monogenic diabetes; Sulfonylurea; hs-CRP.
Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.
MeSH terms
-
Administration, Oral
-
Adolescent
-
Adult
-
DNA / genetics*
-
DNA Mutational Analysis
-
Diabetes Mellitus, Type 2 / drug therapy*
-
Diabetes Mellitus, Type 2 / genetics
-
Diabetes Mellitus, Type 2 / metabolism
-
Female
-
Hepatocyte Nuclear Factor 1-alpha / genetics*
-
Hepatocyte Nuclear Factor 1-alpha / metabolism
-
Humans
-
Hypoglycemic Agents / administration & dosage
-
Injections, Intramuscular
-
Insulin / administration & dosage*
-
Male
-
Mutation*
-
Pedigree
-
Sulfonylurea Compounds / administration & dosage*
-
Tunisia
Substances
-
HNF1A protein, human
-
Hepatocyte Nuclear Factor 1-alpha
-
Hypoglycemic Agents
-
Insulin
-
Sulfonylurea Compounds
-
DNA