Radha, V and Ramya, B and Gopi, S and Kavitha, B and Preetika, S and Thai, K and Unnikrishnan, R and Mohan, V and Gupta, P K (2018) Successful transition to sulphonylurea therapy from insulin in a child with permanent neonatal diabetes due to a KCNJ11 gene mutation. Journal of Diabetology, 9 (2). p. 65. ISSN 2078-7685
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Abstract
Neonatal diabetes mellitus (NDM) is a monogenic form of diabetes mellitus that occurs in the first 6 months of life. It is a rare condition with a prevalence of 1 in 100,000–500,000 live births. We report a 3‑month‑old girl child with high blood glucose levels. She was diagnosed with diabetes mellitus during the 28th day of life and was on treatment with insulin. She was admitted for the control of high blood glucose levels during which she was started on multiple daily insulin treatment, but the control had been poor. As the age of onset is <6 months of life, genetic analysis has been done. It revealed the presence of a heterozygous mutation p. Gly334Val (p. G334V) in KCNJ11 gene which confirmed the diagnosis of NDM. The child was successfully shifted from insulin to sulfonylureas, and the blood glucose levels are well maintained.
Item Type: | Article |
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Official URL/DOI: | http://dx.doi.org/10.4103/jod.jod_37_17 |
Uncontrolled Keywords: | Neonatal diabetes |
Subjects: | Biochemistry,Cell and Molecular Signalling > Genomics in Diabetes Diabetes |
Divisions: | Department of Diabetology Department of Advanced Research Biochemistry |
ID Code: | 1101 |
Deposited By: | surendar radha |
Deposited On: | 25 Jul 2018 12:58 |
Last Modified: | 25 Jul 2018 12:58 |
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