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Etiological investigation of diabetes in young adults presenting with apparent type 2 diabetes.
- Source :
-
Diabetes care [Diabetes Care] 2003 Jul; Vol. 26 (7), pp. 2088-93. - Publication Year :
- 2003
-
Abstract
- Objective: Young adults with newly diagnosed apparent type 2 diabetes present the clinician with a wide differential diagnosis of possible etiology, including autoimmune and genetic causes as well as young-onset type 2 diabetes (YT2D). The characteristics of these groups have been described, but it is not known in which subjects investigation for etiology may be beneficial.<br />Research Design and Methods: A total of 268 unselected U.K. Caucasian subjects diagnosed at ages 18-45 years and not treated with permanent insulin for < or =6 months were studied. All subjects underwent clinical assessment and screening for GAD antibodies (GADA) and tyrosine phosphatase IA-2 antibodies (IA-2A). Screening for a common mutation in the hepatocyte nuclear factor-1 alpha (HNF-1 alpha) gene and the common mitochondrial mutation was performed in the antibody-negative subjects. Subjects without insulin resistance were selected for sequencing of the HNF-1 alpha gene.<br />Results: A specific etiology was defined in 11.6% of the 268 subjects and in 24.7% of the lean subjects. Twenty-six subjects (9.7%) were positive for a beta-cell antibody, one subject had familial partial lipodystrophy and the lamin A/C mutation R482W, and two subjects had the mitochondrial mutation A3243G. Two of 15 selected subjects had HNF-1 alpha mutations, the novel missense mutation A501T, and the previously reported R583Q.<br />Conclusions: This unselected series shows that there is considerable heterogeneity in apparent YT2D. beta-Cell autoantibodies should be performed in all those presenting at ages 18-45 years. Genetic investigations can be targeted to phenotypically defined subjects. The finding of a specific etiology will allow individualization of management and give patients valuable information about their condition.
- Subjects :
- Adult
Age of Onset
Albuminuria epidemiology
Body Mass Index
Coronary Disease epidemiology
Diabetes Mellitus, Type 2 genetics
Diabetic Angiopathies epidemiology
Diabetic Retinopathy epidemiology
Female
Hepatocyte Nuclear Factor 1
Hepatocyte Nuclear Factor 1-alpha
Hepatocyte Nuclear Factor 1-beta
Humans
Male
Nuclear Proteins genetics
Pedigree
Transcription Factors genetics
United Kingdom
White People
DNA-Binding Proteins
Diabetes Mellitus, Type 2 etiology
Subjects
Details
- Language :
- English
- ISSN :
- 0149-5992
- Volume :
- 26
- Issue :
- 7
- Database :
- MEDLINE
- Journal :
- Diabetes care
- Publication Type :
- Academic Journal
- Accession number :
- 12832318
- Full Text :
- https://doi.org/10.2337/diacare.26.7.2088