Background: The pathogenesis of type 1 diabetes (T1D) is multifactorial, caused by interaction of genetic, epigenetic and environmental factors that lead to the production of antibodies early on life and a gradual loss of insulin secretory capacity of the pancreas. The genetics and immunological characteristics of our T1D population have not been precisely identified.
Objective and hypotheses: To compare biochemical, genetic and immunological features of patients with recent-onset T1D against their first-degree relatives.
Method: Design: cross-sectional analytical. Material: T1D patients with disease onset <3 months and first-degree relatives. Methods: Anthropometry was registered. HbA1c, glucose, lipid profile, C peptide, GAD and IA2 antibodies, and class II HLA haplotypes were determined. Statistical analysis with Student t, Mann-Whitney U, ANOVA or Kruskal-Wallis test.
Results: There were 23 patients, 56.5% (n=13) women; 23 mothers, 21 fathers; and 32 siblings. The mean age of the patients was 9.3±3.6 years, 45.2±20.6 days from the onset of diabetes. 27.3% (n=12) of parents and 3.1% (n=1) of the siblings had the metabolic syndrome. 56.6% (n=13) of patients, 4.5% (n=2) of parents and 6.3% (n=2) of the siblings had positive anti-GAD antibodies; 78.2% (n=18) of patients, 45.5% (n=20) of parents and 31.3% (n=10) of the siblings had anti-IA2. 82.6% (n=16) patients, 75% (n=33) of parents and 87.5% (n=28) of the siblings showed haplotype DR4/DQ8. DR5 haplotype/DQ6 appeared in 19.6% (n=11) of patients, 31.8% (n=14) of parents and 46.9% (n=15) of the siblings.
Conclusion: Our findings suggest that in Mexican pediatric population, T1D has a predominant presence of IA2 rather than GAD antibodies; also first-degree relatives show a high proportion of antibody positivity especially for IA2 antibody.
10 - 12 Sep 2016
European Society for Paediatric Endocrinology