Diagnostic heterogeneity of diabetes in lean young adults: classification based on immunological and genetic parameters

Details

Serval ID
serval:BIB_759330396DA2
Type
Article: article from journal or magazin.
Collection
Publications
Title
Diagnostic heterogeneity of diabetes in lean young adults: classification based on immunological and genetic parameters
Journal
Diabetes
Author(s)
Dussoix  P., Vaxillaire  M., Iynedjian  P. B., Tiercy  J. M., Ruiz  J., Spinas  G. A., Berger  W., Zahnd  G., Froguel  P., Philippe  J.
ISSN
0012-1797
Publication state
Published
Issued date
04/1997
Volume
46
Number
4
Pages
622-31
Notes
97230224
0012-1797
Journal Article --- Old month value: Apr --- Old uritopublisher value: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=9075802
Abstract
The aim of our study was to investigate the relative prevalence of the different forms of diabetes in young adults and their respective clinical characteristics. Included were 51 nonobese patients (BMI < 27 kg/m2) with diabetes diagnosed before age 40, excluding typical IDDM. Each patient was subjected to screening for glucokinase gene (MODY2) and mitochondrial DNA (at nucleotide 3243) mutations, to HLA class II genotyping, and screening for the presence of islet cell antibodies (ICAs) and anti-GAD antibodies. Informative families were analyzed for linkage of diabetes to chromosome 12q (MODY3). Based on clinical criteria, patients were subdivided into MODY (n = 19) and non-MODY (n = 32). In the MODY group, we identified three patients with MODY2, one with the 3243 mitochondrial mutation, and another with autoimmune diabetes. One of the five MODY families available for linkage study was shown to have MODY3. In the non-MODY group, we found five patients with autoimmune diabetes and one with MODY2. No clinical parameter was helpful to classify patients in one of these subclasses of diabetes; however, the glucagon-stimulated C-peptide was useful to discriminate between MODY2 patients and the others. In conclusion, young and lean non-insulin-dependent diabetic patients constitute a very heterogeneous group, although they present similar clinical characteristics. The clinical distinction of MODY and non-MODY patients allows correct classification in, at most, 75% of the patients and thus is not sufficient to predict clinical course. However, immunological and genetic parameters allowed us to classify only 25% of the patients in specific diagnostic classes.
Keywords
Adult Autoantibodies/blood Chromosomes, Human, Pair 12/*genetics Cohort Studies Comparative Study Diabetes Mellitus/*classification/*diagnosis/genetics/immunology Family Female Genetic Markers Glucokinase/*genetics Glutamate Decarboxylase/immunology Haplotypes/genetics Human Islets of Langerhans/immunology Linkage (Genetics) Lod Score Male Middle Age Mutation/*genetics Pedigree Phenotype RNA, Transfer, Leu/genetics Support, Non-U.S. Gov't
Pubmed
Web of science
Create date
03/03/2008 15:15
Last modification date
20/08/2019 14:33
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