Mother and daughter carrying the same KCNJ11 mutation but with a different response to switching from insulin to sulfonylurea

Chiara Russo; Alessandro Salina; Concetta Aloi; Dario Iafusco; Renata Lorini; Giuseppe d'Annunzio

doi:10.1016/j.diabres.2011.07.039

Mother and daughter carrying the same KCNJ11 mutation but with a different response to switching from insulin to sulfonylurea

Diabetes Res Clin Pract. 2011 Nov;94(2):e50-2. doi: 10.1016/j.diabres.2011.07.039. Epub 2011 Aug 25.

Authors

Chiara Russo¹, Alessandro Salina, Concetta Aloi, Dario Iafusco, Renata Lorini, Giuseppe d'Annunzio

Affiliation

¹ Pediatric Clinic, University of Genoa, IRCCS G Gaslini Institute, Genoa, Italy.

PMID: 21871684
DOI: 10.1016/j.diabres.2011.07.039

Abstract

KCNJ11 gene mutations are related to permanent neonatal diabetes mellitus (PNDM). Glycemic stability minimizes the risk of complications. Sulfonylureas (SU) are the proven best therapeutic option. We report a 18-month follow-up of switching from insulin to SU in a mother and her daughter with PNDM due to KCNJ11 mutation.

MeSH terms

Adult
Biomarkers / blood
Blood Glucose / drug effects
Blood Glucose / metabolism
Child
DNA Mutational Analysis
Diabetes Mellitus / blood
Diabetes Mellitus / drug therapy*
Diabetes Mellitus / genetics*
Drug Substitution
Female
Genetic Predisposition to Disease
Glycated Hemoglobin / metabolism
Heredity
Humans
Hypoglycemic Agents / administration & dosage*
Insulin / administration & dosage*
Mothers*
Mutation*
Nuclear Family*
Pedigree
Phenotype
Potassium Channels, Inwardly Rectifying / genetics*
Sulfonylurea Compounds / administration & dosage*
Time Factors
Treatment Outcome

Substances

Biomarkers
Blood Glucose
Glycated Hemoglobin A
Hypoglycemic Agents
Insulin
Kir6.2 channel
Potassium Channels, Inwardly Rectifying
Sulfonylurea Compounds
hemoglobin A1c protein, human