Carried by: FIRENDO
References:
Clinician(s): Michel POLAK, Jacques BELTRAND
Biologist(s): Hélène CAVE
Presentation
Neonatal diabetes is a rare condition that affects 1 in every 90,000 to 260,000 newborns. It is characterised by the onset of hyperglycaemia during the first few months of life, requiring insulin treatment and an absence of autoimmunity against the pancreas. It can be transient (NTD) or permanent (PND). It is caused by pathogenic variants of genes involved in glucose metabolism and/or playing a role in the differentiation of pancreatic endocrine cells, or in 70% of NTD cases, by abnormalities of chromosome 6 at locus 6q24.2.
Criteria before considering a discussion in MDM-FMG
- Neonatal diabetes or diabetes before the age of 1 with:
- Negative targeted NGS panel and chromosome 6 analysis
- Up-to-date clinical information
- Complete biological assessment: autoantibodies, HLA typing, insulinemia, C-peptide
- Pancreatic imaging
- Syndromic neonatal form and/or atypical or prolonged transient neonatal hyperglycaemia
- Specific family history
- Discussion of treatment alternatives to insulin
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
Pr Corinne VIGOUROUX
Dr Elise BISMUTH
Dr Jacques BELTRAND