title: Mother and daughter carrying the same KCNJ11 mutation but with a different response to switching from insulin to sulfonylurea.
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.
authors.affiliation: Pediatric Clinic, University of Genoa, IRCCS G Gaslini Institute, Genoa, Italy.
authors.forename: Chiara
authors.initials: C
authors.lastname: Russo
authors.forename: Alessandro
authors.initials: A
authors.lastname: Salina
authors.forename: Concetta
authors.initials: C
authors.lastname: Aloi
authors.forename: Dario
authors.initials: D
authors.lastname: Iafusco
authors.forename: Renata
authors.initials: R
authors.lastname: Lorini
authors.forename: Giuseppe
authors.initials: G
authors.lastname: d'Annunzio
mesh_terms: D000328:Adult; D015415:Biomarkers / Q000097:blood; D001786:Blood Glucose / Q000187:drug effects / Q000378:metabolism; D002648:Child; D004252:DNA Mutational Analysis; D003920:Diabetes Mellitus / Q000097:blood / Q000188:drug therapy* / Q000235:genetics*; D057915:Drug Substitution; D005260:Female; D020022:Genetic Predisposition to Disease; D006442:Glycated Hemoglobin / Q000378:metabolism; D040941:Heredity; D006801:Humans; D007004:Hypoglycemic Agents / Q000008:administration & dosage*; D007328:Insulin / Q000008:administration & dosage*; D009035:Mothers; D009154:Mutation; D009679:Nuclear Family; D010375:Pedigree; D010641:Phenotype; D024661:Potassium Channels, Inwardly Rectifying / Q000235:genetics*; D013453:Sulfonylurea Compounds / Q000008:administration & dosage*; D013997:Time Factors; D016896:Treatment Outcome; D000099161:Kcnj11 Channel
chemical_list: D015415:Biomarkers; D001786:Blood Glucose; D006442:Glycated Hemoglobin; D007004:Hypoglycemic Agents; D007328:Insulin; D024661:Potassium Channels, Inwardly Rectifying; D013453:Sulfonylurea Compounds; D000099161:Kcnj11 Channel; C517652:hemoglobin A1c protein, human