Successful switch from insulin to oral sulfonylurea therapy in HNF1A-MODY Tunisian patient with the P291fsinsC mutation

Souhaïra Ben Khelifa; Azza Dendana; Ilhem Barboura; Ines Khochtali; Hinda Chahed; Selima Ferchichi; Abdelhedi Miled

doi:10.1016/j.diabres.2016.01.015

Successful switch from insulin to oral sulfonylurea therapy in HNF1A-MODY Tunisian patient with the P291fsinsC mutation

Diabetes Res Clin Pract. 2016 May:115:133-6. doi: 10.1016/j.diabres.2016.01.015. Epub 2016 Jan 16.

Authors

Souhaïra Ben Khelifa¹, Azza Dendana², Ilhem Barboura³, Ines Khochtali⁴, Hinda Chahed⁵, Selima Ferchichi⁶, Abdelhedi Miled⁷

Affiliations

¹ Biochemistry Laboratory, CHU Farhat Hached, Sousse 4000, Tunisia. Electronic address: souhaira24@yahoo.fr.
² Biochemistry Laboratory, CHU Farhat Hached, Sousse 4000, Tunisia. Electronic address: azzadendana@yahoo.fr.
³ Biochemistry Laboratory, CHU Farhat Hached, Sousse 4000, Tunisia. Electronic address: ilhembarboura@yahoo.fr.
⁴ Endocrinology Unit, University Hospital of Monastir, Monastir 5000, Tunisia. Electronic address: ineskhoc@yahoo.fr.
⁵ Biochemistry Laboratory, CHU Farhat Hached, Sousse 4000, Tunisia. Electronic address: hindachahed@yahoo.fr.
⁶ Biochemistry Laboratory, CHU Farhat Hached, Sousse 4000, Tunisia. Electronic address: trimechesaly@yahoo.fr.
⁷ Biochemistry Laboratory, CHU Farhat Hached, Sousse 4000, Tunisia. Electronic address: MILED.A@rns.tn.

PMID: 26822262
DOI: 10.1016/j.diabres.2016.01.015

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.

Publication types

Case Reports

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