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[Neonatal diabetes, heterogeneous syndrome]
Summary
Neonatal diabetes (ND) is a rare hyperglycaemia diagnosed in newborns. Follow-up revealed distinct forms: permanent ND, transient-recurrent ND, and Maturity Onset Diabetes of the Young (MODY).
Area of Science:
- Endocrinology
- Pediatrics
- Genetics
Background:
- Neonatal diabetes (ND) is a rare hyperglycaemia presenting within the first month of life.
- It requires insulin therapy and lasts over two weeks, with uncertain pathogenesis.
- Both permanent and transient forms of ND are recognized.
Observation:
- Three neonates initially diagnosed with ND were retrospectively analyzed.
- Clinical data, insulin needs, and biochemical markers were tracked over time.
- Individual patient histories (A.L., A.B., V.I.) were examined.
Findings:
- Case A.L. demonstrated permanent neonatal diabetes.
- Case A.B. presented with a transient-recurrent form of neonatal diabetes.
- Case V.I. was reclassified as Maturity Onset Diabetes of the Young (MODY).
Implications:
- This case series highlights the importance of long-term follow-up in neonatal diabetes diagnosis.
- It underscores the heterogeneity of ND and the need to explore diverse ethiopathogenic mechanisms.
- Accurate diagnosis is crucial for appropriate management and understanding disease progression.