Response to oral gliclazide in a pre-pubertal child with hepatic nuclear factor-1 alpha maturity onset diabetes of the young.
The term "maturity onset diabetes of the young" (MODY) describes a heterogeneous group of monogenic diabetes of which hepatic nuclear factor-1 alpha (HNF-1α) MODY is the most common. Patients with HNF-1α mutations typically present after puberty, and oral sulfonylureas (SU) have been shown to be effective in adults with this condition. A 7-year-old boy presented with asymptomatic hyperglycemia ranging between 6.2 and 10.1 mmol/L and glycosuria for nearly a year. The child's initial HbA 1c was 6.9% and the pancreatic Islet cell autoantibodies were negative. His response to the oral glucose tolerance test (OGTT) showed a large increment of glucose from basal level of 7.7 to 21.1 mmol/L in 120 min. The mild presentation, family history, and negative autoantibodies were suggestive of HNF-1α MODY, which was confirmed by mutation analysis. Initial management with diet alone was not sufficient, but he responded well to 20 mg oral gliclazide once a day with an improvement of HbA 1C from 7.2% to 6.5% within 3 months of treatment. The case is an illustration of the clinical utility of molecular genetic tests in the management of childhood diabetes.
Paediatric Endocrine Unit, Maternity and Children Hospital, Medina, Saudi Arabia. amhabeb@hotmail.com
Abdelhadi M
AM
Habeb
Elizabeth T
ET
George
Verghese
V
Mathew
Andrew L
AL
Hattersley
D001786:Blood Glucose; D002648:Child; D003924:Diabetes Mellitus, Type 2 / Q000175:diagnosis / Q000188:drug therapy* / Q000235:genetics; D005500:Follow-Up Studies; D005820:Genetic Testing / Q000379:methods; D005907:Gliclazide / Q000627:therapeutic use*; D005951:Glucose Tolerance Test; D006442:Glycated Hemoglobin / Q000378:metabolism; D051538:Hepatocyte Nuclear Factor 1-alpha / Q000235:genetics*; D006801:Humans; D007004:Hypoglycemic Agents / Q000627:therapeutic use*; D008297:Male; D016896:Treatment Outcome
D001786:Blood Glucose; D005907:Gliclazide; D006442:Glycated Hemoglobin; D051538:Hepatocyte Nuclear Factor 1-alpha; D007004:Hypoglycemic Agents
Pediatr Diabetes. 2006 Dec;7(6):352-60
17212604
EMBO Rep. 2000 Oct;1(4):359-65
11269503
Diabetes. 2001 Feb;50 Suppl 1:S94-100
11272211
Endocrinology. 2006 Jun;147(6):2657-63
16556760
Diabetes Care. 2002 Dec;25(12):2292-301
12453976
Diabetes. 2008 Feb;57(2):503-8
18003757
Diabetes Res Clin Pract. 2008 Jul;81(1):e1-3
18433912
Diabetologia. 2002 Mar;45(3):427-35
11914749
Diabet Med. 1998 Oct;15(10):816-20
9796880
Vnitr Lek. 2006 Mar;52(3):275-9
16722160
Diabetes. 2001 Feb;50 Suppl 1:S101-7
11272165
Diabetes. 1997 Apr;46(4):720-5
9075818
Arch Dis Child. 2004 Jun;89(6):526-9
15155395
Diabetes Care. 2003 Nov;26(11):3191-2
14578267
An Pediatr (Barc). 2008 Dec;69(6):568-71
19128771
Diabet Med. 2000 Jul;17(7):543-5
10972586
Lancet. 2003 Oct 18;362(9392):1275-81
14575972
Diabetes Care. 2007 May;30(5):1097-101
17259470
Diabetologia. 1998 Apr;41(4):467-73
9562352
J Med Genet. 2006 Jan;43(1):84-90
15930087
Diabetes Care. 2002 Dec;25(12):2287-91
12453975