title: [From injections to pills--neonatally diagnosed diabetes of mother and baby].
abstract: The genetic background of neonatally diagnosed diabetes has begun to become clear only in the last few years. Recognition of the disease mechanism has often allowed the replacement of insulin therapy by sulfonylurea, which has improved the patients' quality of life and diabetes control. We describe a male infant diagnosed with neonatal diabetes, and his mother, who has had a disease considered to be type 1 diabetes since infancy. Both were diagnosed with a mutation in the KCNJ11 gene coding for the beta cell potassium channel and causing neonatal diabetes. The patients were treated with sylfonylurea.
authors.affiliation: OYS:n lasten ja nuorten klinikka, PL 23, 90029 OYS.
authors.forename: Kari
authors.initials: K
authors.lastname: Kaunisto
authors.forename: Marja
authors.initials: M
authors.lastname: Ojaniemi
authors.forename: Anna-Kaisa
authors.initials: AK
authors.lastname: Juuti
authors.forename: Hanna
authors.initials: H
authors.lastname: Huopio
authors.forename: Markku
authors.initials: M
authors.lastname: Laakso
authors.forename: Riitta
authors.initials: R
authors.lastname: Veijola
mesh_terms: D003922:Diabetes Mellitus, Type 1 / Q000188:drug therapy / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D024661:Potassium Channels, Inwardly Rectifying / Q000235:genetics*; D011247:Pregnancy; D011788:Quality of Life; D013453:Sulfonylurea Compounds / Q000627:therapeutic use; D000099161:Kcnj11 Channel
chemical_list: D024661:Potassium Channels, Inwardly Rectifying; D013453:Sulfonylurea Compounds; D000099161:Kcnj11 Channel