Which children with DM should be screened for MODY?

  • Carlsson A & al.
  • Diabetes Care
  • 08.11.2019

  • von Miriam Tucker
  • Clinical Essentials
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Takeaway

  • Absence of 4 type 1 diabetes-associated autoantibodies (GAD antibody, insulinoma antigen-2A, zinc transporter 8A, and IAA), and HbA1c GCK, HNF1A, and HNF4A.

Why this matters

  • A correct MODY diagnosis can allow youth to avoid insulin.

Study design

  • Swedish patients (n=3933) ages 1-18 years with diagnosed diabetes mellitus (DM) were tested for the 4 autoantibodies, and MODY was identified through sequencing of the 3 genes.
  • Funding: Swedish Child Diabetes Foundation; NIH; National Institute for Health Research (UK); Wellcome Trust.

Key results

  • Most (88%, n=3471) had ≥1 autoantibody, none of whom had MODY.
  • Factors predicting MODY at diagnosis:
    • Negativity for all 4 autoantibodies (100% vs 11% not-known MODY, P=2×10-44); 
    • Lower HbA1c, 7.0% vs 10.7% (P=1×10-20); 
    • Lower random plasma glucose (mean 11.7 vs 26.7 mmol/L; P=3×10-19); 
    • Parental diabetes (63% vs 12%; P=1×10-15); and
    • No diabetic ketoacidosis (0/46 vs 601/3887; P=.001).
  • Of 303 autoantibody-negative patients genetically tested, 15% had MODY.
  • Testing only the 73 autoantibody-negative patients with HbA1c
  • At an average 5.9 years after initial diabetes diagnosis, the 46 with MODY had mean HbA1c 6.4%, and 91% were not using insulin.  

Limitations

  • Only 3 MODY subtypes tested.
  • All-Swedish population.