Literature DB >> 21210267

Neonatal diabetes mellitus due to L233F mutation in the KCNJ11 gene.

Rajesh Joshi1, Ankur Phatarpekar.   

Abstract

BACKGROUND: Neonatal diabetes mellitus (NDM) due to KCNJ11 gene mutation presents with diabetes in the first 3 months of life and sometimes with neurological features like developmental delay, muscle weakness and epilepsy.
METHODS: A 5-week-old boy presented with diabetic ketoacidosis. Molecular genetic analysis of the patient revealed heterozygous missense mutation, L233F in the KCNJ11 gene, while his mother was mosaic for the same mutation.
RESULTS: The treatment strategy was changed from insulin injections to oral glibenclamide and with a better glycemic control.
CONCLUSION: The patient with NDM due to mutation L233F (not reported till date) in the KCNJ11 gene can be successfully treated with oral glibenclamide therapy.

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Year:  2011        PMID： 21210267     DOI： 10.1007/s12519-011-0254-z

Source DB:  PubMed          Journal:  World J Pediatr            Impact factor:   2.764


  7 in total

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