DOAJ Open Access 2018

Successful transition to sulphonylurea therapy from insulin in a child with permanent neonatal diabetes due to a KCNJ11 gene mutation

Venkatesan Radha Bhuvanagiri Ramya Sundaramoorthy Gopi Babu Kavitha Somayajula Preetika +4 lainnya

Abstrak

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.

Topik & Kata Kunci

Diseases of the endocrine glands. Clinical endocrinology

Penulis (9)

Venkatesan Radha

Bhuvanagiri Ramya

Sundaramoorthy Gopi

Babu Kavitha

Somayajula Preetika

Kalpana Thai

Ranjit Unnikrishnan

Viswanathan Mohan

Prasanna Kumar Gupta

Format Sitasi

APA MLA BibTeX

Radha, V., Ramya, B., Gopi, S., Kavitha, B., Preetika, S., Thai, K. et al. (2018). Successful transition to sulphonylurea therapy from insulin in a child with permanent neonatal diabetes due to a KCNJ11 gene mutation. https://doi.org/10.4103/jod.jod_37_17

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Informasi Jurnal

Tahun Terbit: 2018
Sumber Database: DOAJ
DOI: 10.4103/jod.jod_37_17
Akses: Open Access ✓