Voyage helvetique a travers les caracteristiques cliniques et genetiques du diabete du sujet jeune. [Swiss journey through the clinical and genetic characteristics of diabetes in young patients]

Details

Serval ID
serval:BIB_82908E5CA834
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Voyage helvetique a travers les caracteristiques cliniques et genetiques du diabete du sujet jeune. [Swiss journey through the clinical and genetic characteristics of diabetes in young patients]
Journal
Schweizerische Medizinische Wochenschrift
Author(s)
Dussoix  P., Tappy  L., Philippe  J.
ISSN
0036-7672 (Print)
Publication state
Published
Issued date
01/1998
Volume
128
Number
5
Pages
162-6
Notes
English Abstract
Journal Article
Research Support, Non-U.S. Gov't --- Old month value: Jan 31
Abstract
The aim of this study is to understand better the genetic causes of type II diabetes and the phenotypic consequences of the genetic changes. We first investigated the relative prevalence of the different forms of diabetes in young adults and their clinical features. 51 non-obese patients were identified in whom diabetes had been diagnosed before age 40; cases of typical insulin-dependent type I diabetes were excluded. A search for mutations of the glucokinase and HNF-1 alpha genes and for mitochondrial DNA was made, anti-islet and anti-GAD antibodies were determined and HLA class II genotyping was performed. Patients were subdivided on clinical grounds into a MODY (maturity onset diabetes of the young) group (n = 19) and a non-MODY group (n = 32). MODY is a form of diabetes which has an autosomal dominant inheritance for which 3 genes have already been implicated (MODY1, HNF-4 gene; MODY2, glucokinase gene, and MODY3, HNF-1 alpha gene). In the MODY group we identified 3 patients with MODY2, 1 with MODY3, 1 with the 3243 mitochondrial mutation and a further patient with autoimmune diabetes. In the non-MODY group we found 5 patients with autoimmune diabetes and 1 with MODY2. No clinical parameter was helpful in classifying patients in one of these subclasses of diabetes; however, glucagon stimulated C-peptide was useful in discriminating between MODY2 patients and the others. Young and lean non-insulin-dependent diabetic patients thus constitute a very heterogeneous group, though presenting similar clinical features. In the second study we analyzed hepatic glucose metabolism in patients with a mutation of the glucokinase gene expressed in both liver and islet beta cells. We found that endogenous glucose production is inadequately inhibited by hyperglycemia, a fact which contributes to the pathogenesis of hyperglycemia in these patients.
Keywords
Adult Autoimmune Diseases/classification/diagnosis/genetics Blood Glucose/metabolism Diabetes Mellitus, Type 2/classification/diagnosis/*genetics Diagnosis, Differential Glucokinase/genetics Humans Islets of Langerhans/enzymology Liver/enzymology Mutation Pedigree Phenotype Switzerland
Pubmed
Web of science
Create date
24/01/2008 13:36
Last modification date
20/08/2019 14:42
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