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Chapter 4: The Diagnosis and management of monogenic diabetes in children

Chapter 4: The Diagnosis and management of monogenic diabetes in Children

 Andrew T. Hattersley, Siri Atma W Greeley, Michel Polak, Oscar Rubio-Cabezas, Pål R Njølstad, Wojciech Mlynarski, Luis Castano, Annelie Carlsson, Klemens Raile, Dung Vu Chi, Sian Ellard, Maria E Craig 

Chapter Highlights:

  • The presentation of a familial form of diabetes in young people should raise the suspicion of monogenic diabetes, with recent data indicating that approx. 1–6% of pediatric diabetes cases have monogenic diabetes.
  • Next-generation sequencing (NGS) enables the simultaneous analysis of multiple genes at a lower cost and has already become a feasible alternative to traditional genetic testing in cases of suspected monogenic diabetes.
  • All patients diagnosed with diabetes in the first 6 months of life should have immediate molecular genetic testing to define their subtype of monogenic neonatal diabetes mellitus.
  • Based on key gene variants associated with type 1 diabetes, composite type 1 diabetes genetic risk scores provide a novel tool to differentiate type 1 diabetes from monogenic and type 2 diabetes. 
  • The differentiation between type 1, type 2, monogenic and other forms of diabetes has important implications for both therapeutic decisions and educational approaches.

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