[High sensitivity to sulphonylurea treatment in 2 patients with maturity-onset diabetes of the young type 3].
In 2 patients, a 26-year-old woman and a 47-year-old man, diabetes mellitus was diagnosed during their teens, although they had (almost) no symptoms at the time. Since then, the disease was well controlled in both patients with the use of tolbutamide at a low dose. Diabetes occurred in at least 3 generations of both patients' families, inherited as an autosomal dominant trait. Genetic screening in both individuals revealed two separate mutations in the HNF-1 alpha gene, confirming maturity-onset diabetes of the young type 3 (MODY-3). MODY-3 patients are unusually sensitive to the hypoglycaemic effects of sulphonylureas. These agents remain effective in these patients for years, even at low doses.
Bosselaar
M
M
Universitair Medisch Centrum St Radboud, afd. Algemeen Interne Geneeskunde, Postbus 9101, 6500 HB Nijmegen.
Hattersley
A T
AT
Tack
C J J
CJ
D000328:Adult; D004268:DNA-Binding Proteins; D003924:Diabetes Mellitus, Type 2 / Q000188:drug therapy* / Q000235:genetics; D005260:Female; D051537:Hepatocyte Nuclear Factor 1; D051538:Hepatocyte Nuclear Factor 1-alpha; D051539:Hepatocyte Nuclear Factor 1-beta; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009687:Nuclear Proteins; D013453:Sulfonylurea Compounds / Q000009:adverse effects* / Q000627:therapeutic use*; D014157:Transcription Factors / Q000235:genetics
D004268:DNA-Binding Proteins; C496487:HNF1A protein, human; C496495:HNF1B protein, human; D051538:Hepatocyte Nuclear Factor 1-alpha; D009687:Nuclear Proteins; D013453:Sulfonylurea Compounds; D014157:Transcription Factors; D051537:Hepatocyte Nuclear Factor 1; D051539:Hepatocyte Nuclear Factor 1-beta