213 Revisiting diagnoses of type 1 diabetes mellitus on all patients attending the paediatric diabetes service, university hospital galway, ireland; are we missing cases of mody?. (11th October 2021)

• Record Type: Journal Article
• Authors: Flynn, Aoife; Corcoran, Aoife; McGrath, Robert; McGrath, Niamh
• Is Part Of: Archives of disease in childhood. Volume 106(2021)Supplement 2
• Page Start: A90
• Page End: A90
• Publication Date: 2021-10-11
• Subjects: Children -- Diseases -- Periodicals; Infants -- Diseases -- Periodicals; 618.920005
• DOI: 10.1136/archdischild-2021-europaediatrics.213
• Languages: English
• ISSNs: 0003-9888

Abstract

Abstract : Introduction: As per the National Diabetes Guideline, auto-antibodies should be tested for all paediatric patients at presentation, to confirm a diagnosis of Type 1 Diabetes Mellitus. It is reported that up to 10% of children diagnosed with T1DM have antibody negative Type 1 Diabetes Mellitus and furthermore, it is estimated that 5-6% have Monogenic Diabetes/MODY. The heterogeneous group of monogenic diabetics are often misclassified as having Type1 or Type2 Diabetes Mellitus. Aims: To audit the antibody profile of all paediatric patients attending the Diabetes Service at UHG. To repeat a full antibody profile, for those patients with incomplete/no antibodies sent. To invite patients with negative antibodies and a detectable c-peptide, out of the honeymoon period, to undergo genetic testing for MODY. Methods: A database of all paediatric diabetes patients was created using a secure, hospital-only accessed drive and subsequently anonymised. The electronic health record of each patient was reviewed to identify if antibodies had been sent at diagnosis. Antibody results (Anti-GAD, Anti-IA2, ZnT8 Antibodies) were recorded on all patients. Patients were categorised as antibody positive, negative or incomplete. Those with a negative or incomplete profile were identified for repeat/further investigation including repeat antibodies, c-peptide or genetic testing. Results: 195 patients were included in the study. Of these, 36% (n=69) had incomplete or no antibodies sent at diagnosis. 64% (n=126) had complete antibody profiles; of these, 104 patients had positive antibodies. 22 patients had negative antibodies and have had C-peptide sent. To date, we have identified one patient with Monogenic Diabetes (INS mutation). Conclusion: At diagnosis, MODY cannot be distinguished easily from Type 1 Diabetes Mellitus, based on clinical characteristics. Reviewing the antibody profile and identifying these patients is essential in guiding prognosis and appropriate treatment, as well as inheritability of the disease.