title: [Glucokinase gene mutation as a causative factor of permanent neonatal diabetes mellitus].
abstract: BACKGROUND
  The most frequent type of diabetes in childhood is type 1 diabetes. Thanks to the development of genetic testing, the rare monogenic forms of that disease have been defined. One of them is neonatal diabetes identified within the first 6 months of life and often associated with the mutation in KCNJ11, ABCC8 or insulin gene. A less frequent mutation in the glucokinase gene can cause both permanent neonatal diabetes as well as mild diabetes MODY 2.
  
  
  METHODS
  A 33-day-old boy admitted to hospital because of hyperglycemia from the first day of life. Treatment with intravenous infusion of insulin since 5 days of life. A child born out of the first pregnancy in the 37th week of gestation, with hypotrophy symptoms. The pregnancy had been complicated by gestational diabetes. Birth weight 2030 g. Insulin and c-peptide level significantly below normal. Immunologic markers of type 1 diabetes were negative. A continuous subcutaneous insulin infusion using a personal insulin pump was begun in the 60th day of life. Irregularities in the economy of carbohydrates were found in the parents. A double mutation in the glucokinase gene in genetic testing explained the cause of neonatal diabetes. The boy had inherited from his parents two different mutations in glucokinase gene: from the mother S384L and from the father T207M. He is a complex heterozygote.
  
  
  CONCLUSIONS
  Genetic diagnosis helped determine the cause of neonatal diabetes in the child and MODY 2 diabetes in the parents. Personal insulin pump therapy is the most effective treatment in children during infancy.
authors.affiliation: Klinika Endokrynologii i Diabetologii Instytutu Pomnik-Centrum Zdrowia Dziecka w Warszawie. malgwa@tlen.pl
authors.forename: Małgorzata
authors.initials: M
authors.lastname: Wajda-Cuszlag
authors.forename: Daniel
authors.initials: D
authors.lastname: Witkowski
authors.forename: Elżbieta
authors.initials: E
authors.lastname: Piontek
authors.forename: Marta
authors.initials: M
authors.lastname: Wysocka-Mincewicz
authors.forename: Maciej
authors.initials: M
authors.lastname: Borowiec
authors.forename: Wojciech
authors.initials: W
authors.lastname: Młynarski
authors.forename: Mieczysław
authors.initials: M
authors.lastname: Szalecki
mesh_terms: D003922:Diabetes Mellitus, Type 1 / Q000188:drug therapy / Q000201:enzymology* / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005941:Glucokinase / Q000235:genetics* / Q000378:metabolism; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D007328:Insulin / Q000008:administration & dosage; D007332:Insulin Infusion Systems; D008297:Male; D020125:Mutation, Missense; D014158:Transcription, Genetic / Q000235:genetics
chemical_list: D007328:Insulin; D005941:Glucokinase