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    Indian J Pediatr. 2007 Oct;74(10):947-9.

    Permanent neonatal diabetes due to KCNJ11 gene mutation.

    Letha S, Mammen D, Valamparampil JJ.

    Source

    Department of Pediatrics, Government Medical College, Kottayam, Kerala, India. drletha@gmail.com

    Abstract

    Permanent neonatal diabetes mellitus (PNDM) is characterized by the onset of diabetes within the first six months of life and insulin dependence life long. It has been recently discovered that mutation in KCNJ11 gene encoding Kir6.2, the pore forming subunit of ATP sensitive potassium channel (K ATP) is the most common cause and such patients may respond better to oral sulphonylurea drugs than insulin. Here is a rare case of permanent neonatal diabetes due to R20IC mutation in KCNJ11 gene.

    PMID:
    17978456
    [PubMed - indexed for MEDLINE]

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