Diagnosis and Phenotypes of Idiopathic Diabetes: A Systematic Review
Authors' conclusion
A significant proportion of T1bD cases may have an undetermined genetic basis, emphasizing the need for more comprehensive diagnostic assessments. Increased use of advanced genetic screening, such as whole genome sequencing, and data sharing are vital for improving diagnosis and management, potentially enabling personalized treatment for idiopathic diabetes.
Study context
- Population
- Type-1b diabetes (T1bD) cases lacking classic autoimmune markers or high-risk human leukocyte antigen (HLA) alleles; case reports, cross-sectional and cohort studies from PubMed, Web of Science and Scopus up to March 14, 2024
- Participants
- 290 participants17 studies
- Outcome
- Reclassification (ADA criteria) and genetic findings in T1bD
Pooled result
As reported in the abstract
T1bD cases after reclassification
201
Autoantibody-negative T1bD cases with pathogenic variants linked to monogenic diabetes (e.g. MODY; INS, KCNJ11, KLF1 mutations linked to neonatal diabetes)
30%
T1bD cases that underwent exome sequencing
60
T1bD cases with whole genome sequencing
0
Original publication
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