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Permanent neonatal diabetes mellitus due to an ABCC8 mutation: a case report
Nithya Abraham1, Anish Ahamed, Ambika Gopalakrishnan Unnikrishnan
1Department of Endocrinology, Amrita Institute of Medical Sciences. Cochin, India. drnithya22@gmail.com.
Context:
Neonatal diabetes is a rare disorder with an incidence of about 1 in 100,000 live births. It is defined as diabetes diagnosed in the first 6 months of life and it is vital to differentiate this entity from type 1 diabetes to enable accurate diagnosis, prognosis, genetic counseling and treatment.
Case Report:
We describe a case of permanent neonatal diabetes mellitus due to a novel mutation affecting the ABCC8 gene that encodes the SUR1 subunit of potassium ATP channel (KATP).
Conclusion:
This genetic diagnosis has therapeutic implications as patients can switch from insulin therapy to sulphonylurea, as described in this case report.
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