Permanent neonatal diabetes by a new mutation in KCNJ11: unsuccessful switch to sulfonylurea.

@article{Lau2015PermanentND,
  title={Permanent neonatal diabetes by a new mutation in KCNJ11: unsuccessful switch to sulfonylurea.},
  author={E. Lau and C. Correia and P. Freitas and C. Nogueira and M. Costa and A. Saavedra and C. Costa and D. Carvalho and M. Fontoura},
  journal={Archives of endocrinology and metabolism},
  year={2015},
  volume={59 6},
  pages={
          559-61
        }
}
Permanent neonatal diabetes (PNDM) can result from activating heterozygous mutations in KCNJ11 gene, encoding the Kir6.2 subunit of the pancreatic ATP-sensitive potassium channels (KATP). Sulfonylureas promote KATP closure and stimulate insulin secretion, being an alternative therapy in PNDM, instead of insulin. Male, 20 years old, diagnosed with diabetes at 3 months of age. The genetic study identified a novel heterozygous mutation in exon 1 of the KCNJ11 gene - KCNJ11:c1001G>7 (p.Gly334Val… Expand
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