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A case of neonatal diabetes
Raju A Gopal1, Shrikrishna V Acharya, Tushar R Bandgar
1Department of Endocrinology, Seth GS Medical College and KEM Hospital, Mumbai 400012.
Journal of the Indian Medical Association
|May 18, 2010
Summary
A rare genetic mutation caused neonatal diabetes mellitus in an infant, leading to diabetic keto-acidosis. The child was successfully treated, eventually stopping insulin therapy and maintaining normal blood sugar levels.
Area of Science:
- Genetics
- Endocrinology
- Pediatrics
Background:
- Neonatal diabetes mellitus is a rare condition requiring intensive management.
- Diabetic keto-acidosis in infants presents a critical clinical challenge.
Observation:
- A one-month-old infant presented with diabetic keto-acidosis without neurological or dysmorphic features.
- Genetic analysis revealed a heterozygous missense mutation in the ABCC8 gene, coding for SUR1.
Findings:
- The identified ABCC8 gene mutation is a rare cause of neonatal diabetes mellitus.
- The infant's insulin requirements decreased over time, allowing for discontinuation of insulin by six months.
- The child achieved and maintained normoglycaemia post-treatment.
Implications:
- This case highlights activating ABCC8 mutations as a treatable cause of neonatal diabetes.
- Understanding the genetic basis of neonatal diabetes can guide personalized treatment strategies.
- Early genetic diagnosis can prevent severe metabolic complications and improve long-term outcomes.
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