Molecular and Clinical Profiles of Pediatric Monogenic Diabetes Subtypes: Comprehensive Genetic Analysis of 138 Patients
Authors' conclusion
NGS tests helped to identify the precise etiology of monogenic diabetic patients, which has implications for better individualized management.
Study context
- Population
- Chinese children with suspected monogenic diabetes, from 1550 consecutive children with diabetes/hyperglycaemia, Children's Hospital of Nanjing Medical University, 2012–2023suspected MD
- Participants
- 138 children
- Exposure
- Neonatal diabetes mellitus (NDM) vs Suspected maturity onset diabetes of the young (MODY) vs SDM
- NDMn = 16
- Suspected MODYn = 97
- SDMn = 25
- Outcome
- Next-generation sequencing (NGS) pick-up rate of monogenic diabetes
Methodological detailssingle-centre, next-generation sequencing
- Single-centre
- Next-generation sequencing
Main finding
As reported in the abstract
- Overall pick-up rate of MD among antibody-negative children
- 58% (80 of 138)
Observational data: associations, not effects.
Further findings
Genetic findings
- Pathogenic variants in GCK, HNF1A, INS, KCNJ11, INSR, HNF4A, ABCC8, WFS1, ALMS1, HNF1B, BLK and ZFP57; novel variants
- 13
- Patients with copy number variants
- 4
- GCK-MODY was the leading cause and mildest type of MODY
Lipid profile
- Favourable lipid profile in GCK-MODY vs non-GCK-MODY and MODYX
Treatment change after genetic diagnosis
- Switched from insulin to oral agents or lifestyle interventions
- 19 patients
Original publication
Molecular and Clinical Profiles of Pediatric Monogenic Diabetes Subtypes: Comprehensive Genetic Analysis of 138 Patients. J Clin Endocrinol Metab. Published 6 November 2024. doi:10.
Composed by AI from the published abstract and checked against it. How Briefs are made →