A case of new mutation in maturity-onset diabetes of the young type 3 (MODY 3) responsive to a low dose of sulphonylurea.
We describe a girl aged 10.5 years with hyperglycemia, whose mother and maternal father had insulin treated diabetes since adolescence. Using genetic analysis in mother and child, we identified identical new mutation of the HNF-1alpha sequence. Treatment with small doses of sulphonylurea was initiated and that therapy gave good results.
Jesić
Maja D
MD
Endocrinology Department, University Children's Hospital, Tirsova 10, 11000 Belgrade, Serbia. MMatejic@beotel.yu
Sajić
Silvija
S
Jesić
Milos M
MM
Maringa
Monika
M
Micić
Dragan
D
Necić
Svetislav
S
D002648:Child; D003924:Diabetes Mellitus, Type 2 / Q000188:drug therapy* / Q000235:genetics*; D005260:Female; D051538:Hepatocyte Nuclear Factor 1-alpha / Q000235:genetics*; D006801:Humans; D006943:Hyperglycemia / Q000175:diagnosis / Q000235:genetics; D007004:Hypoglycemic Agents / Q000627:therapeutic use*; D007328:Insulin / Q000627:therapeutic use; D008297:Male; D009154:Mutation; D011247:Pregnancy; D011248:Pregnancy Complications / Q000188:drug therapy; D013453:Sulfonylurea Compounds / Q000627:therapeutic use*
C496487:HNF1A protein, human; D051538:Hepatocyte Nuclear Factor 1-alpha; D007004:Hypoglycemic Agents; D007328:Insulin; D013453:Sulfonylurea Compounds