medwireNews: Genetic analysis of children in a national registry reveals undiagnosed maturity-onset diabetes of the young (MODY) among antibody-negative patients with type 1 diabetes, with implications for their treatment.
The rate of MODY among these 469 patients was 4.1% when restricted to those carrying variants that were likely or definitely pathogenic. It rose to 6.5% when including patients who had variants of unknown significance, but, nonetheless, had a clinical profile very similar to those who met the stricter MODY definition.
Two-thirds of the children with possible MODY had already been identified and referred for genetic testing based on clinical features, but nine, including four with probable or definite pathogenic variants, were undiagnosed.
“Thus, there is a need for better information and more robust ‘best practise’ for diagnosing MODY,” the team suggests in Diabetologia. “It might now be time to consider screening for the common MODY genes in all children and adolescents who develop autoantibody-negative diabetes.”
The prevalence of MODY genetic variants (the researchers investigated 16) was much lower among 469 patients with antibody-positive type 1 diabetes (0.2–2.4%), but even here Pål Njølstad (University of Bergen, Norway) and study co-authors identified one child who had MODY in addition to type 1 diabetes.
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