Carried by: FIRENDO
References:
Clinician(s): Corinne VIGOUROUX, Elise BISMUTH
Biologist(s): Christine BELLANNE-CHANTELOT
Presentation
Early-onset non-autoimmune diabetes, diagnosed between 6 months and 18 years of age, with insulin secretion deficiency, severe insulin resistance and/or major glycaemic variations, suggesting a monogenic cause, in a syndromic or non-syndromic context (lipoatrophy, dysmorphy, other metabolic alterations, and/or specific organ damage).
Criteria before considering a discussion in MDM-FMG
- Early-onset diabetes (between 6 months and 18 years of age) and/or major glycaemic variations
- Access to parental samples except in cases of force majeure
- Absence of type 1 diabetes-related autoantibodies
- Sporadic form or evidence suggesting a dominant form
- Results of tests for insulin secretion and sensitivity (insulin or C-peptide, lipid profile, investigation of other metabolic abnormalities)
- Search for evidence supporting a syndromic or non-syndromic form of diabetes: lipodystrophy, dysmorphy, specific organ damage
- Routine testing for ‘monogenic diabetes’ and/or ‘lipodystrophy/insulin resistance’ genes negative
Genome Sequencing in diagnostic strategy
MDM cartography
MDM
Type of the MDM
City of the coordinator
Name, first name, and email of the contact
MDM Neonatal Diabetes and Rare Forms of Diabetes in Children and Adolescents
National
Paris
Corinne Vigouroux
Elise Bismuth
Jacques Beltrand