Background: Diabetes mellitus (DM) is one of minor components of autoimmune polyglandular syndrome type 1 (APS1). The prevalence of DM in APS1 varies from 2.5 to 18% in different populations.
Objective and hypotheses: To study disease phenotype and genotype of APS1 patients with DM.
Method: All patients diagnosed with DM were selected from the Russian registry of APS1 patients. Clinical data, AIRE-gene mutations and immunological studies were retrospectively assessed in this group. APS1 was confirmed by clinical criteria and/or AIRE mutations in all 87 patients.
Results: Ten of 87 patients with APS1 were found to have DM (nine patients) or glucose intolerance (one patient). Islet autoantibodies were investigated in eight of ten patients (100% were positive for IA2, 60% were positive for GAD65, 30% were positive for IAA and none were positive for ICA). Frequent R257X AIRE mutation was found in 14 of 20 alleles (70%). The mean age of DM manifestation was 13.0 (1.520.1). The mean level of HbA1c was 8.0% (5.49.6). Seven patients require insulin therapy with average dose 0.7 U/kg per day (0.51.3). Three patients remain insulin-independent and have normal HbA1c (5.1%, 5.3%, 5.4%) during 12, 22 and 30 months of follow-up, respectively. Very slow decrease of insulin secretion has been observed (Table 1).
|Time||0 min||120 min|
|Months after diagnosis with DM||0||30||0||30|
Conclusion: Prevalence of DM in APS1 in Russia is very high (11.4%) compared to other populations except Finnish. One-third (30%) of patients with APS1 show slowly progressive insulin deficiency. Autoantibodies to IA2 were positive in all investigated patients which corresponds to other studies.
20 - 22 Sep 2014
European Society for Paediatric Endocrinology