Glibenclamide treatment in permanent neonatal diabetes mellitus due to an activating mutation in Kir6.2.

@article{Zung2004GlibenclamideTI,
  title={Glibenclamide treatment in permanent neonatal diabetes mellitus due to an activating mutation in Kir6.2.},
  author={A. Fr. Zung and Benjamin Glaser and Revital Nimri and Zvi Zadik},
  journal={The Journal of clinical endocrinology and metabolism},
  year={2004},
  volume={89 11},
  pages={5504-7}
}
Permanent neonatal diabetes mellitus (PNDM) is a rare form of diabetes characterized by insulin-requiring hyperglycemia that is diagnosed within the first months of life. Recently, activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 were identified in 10 PNDM patients. Tolbutamide-stimulated insulin secretion, demonstrated in 3 of these patients suggested that some PNDM patients may respond to oral sulfonylurea treatment. In this report, we describe an… CONTINUE READING

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