Autoantibody-Positive versus Autoantibody-Negative Type 1 Diabetes in Children: Clinical and Biochemical...

This study aimed to investigate differences in clinical and biochemical characteristics between autoantibody-positive and autoantibody-negative type 1 diabetes mellitus (T1DM) in children, to get a better understanding of autoantibody-negative T1DM.

This study is a monocenter retrospective cross-sectional cohort study conducted at Diaboss, a Dutch pediatric diabetes clinic at OLVG hospital. Patients diagnosed with T1DM before the age of 18 years were included. Patients tested positive for one or more diabetes-associated autoantibodies (GADA, IA2A, ZnT8, IAA, and/or ICA) were considered autoantibody positive. Patients solely positive for anti-ICA were excluded.

A total of 562 patients were recruited. Eight of 562 (1.4%) patients tested positive for a monogenic cause of diabetes at a later stage and were excluded. A total of 11 of 488 (2.2%) autoantibody-positive patients tested solely positive for anti-ICA and were excluded. In 15 of 66 patients (23%) with autoantibody-negative T1DM, monogenic causes were ruled out by genetic testing. The other 51 patients (77%) were not tested. Autoantibody-negative patients with a positive family history for diabetes were more likely to be tested for monogenic causes (p = 0.002). No significant differences in demographic and clinical characteristics, diabetes presentation, and long-term diabetes regulation were found between autoantibody-positive and autoantibody-negative patients.

In our study, autoantibody-positive and -negative T1DM patients were similar. This implies that both patient groups can be approached in the same way regarding treatment, education, and prognosis. Misdiagnosis of monogenic causes within T1DM could occur; therefore, clinicians should be aware of and perform genetic tests according to international guidelines.