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| permanent neonatal diabetes mellitus ： ウィキペディア英語版 |
permanent neonatal diabetes mellitus
A newly identified and potentially treatable form of monogenic diabetes is the neonatal diabetes caused by activating mutations of the ''KCNJ11'' gene, which codes for the Kir6.2 subunit of the beta cell KATP channel.〔Hattersley A, Gloyn A, Pearson E, Edgehill E, Flanagan S, Ellard S. Novel monogenic diabetes results from activating mutations in Kir6.2 Presented at the First Meeting for the European Group for the Study of Monogenic Diabetes (("MODY in Malaga" )); Malaga, Spain, 21 October 2004. Published form should be available in 2005.〕 This disease is considered to be a type of maturity onset diabetes of the young (MODY).
It can be associated with ''GCK'', ''KCNJ11'', ''INS'', and ''ABCC8''.
==Presentation and diagnosis==
This results in congenital impairment of insulin release, although in the past, this was always being thought to be unusually early type 1 diabetes mellitus. The insulin deficiency results in intrauterine growth retardation with birth weight small for gestational age. The diabetes is usually diagnosed in the first 3 months of life due to continuing poor weight gain, polyuria, or diabetic ketoacidosis. Rare cases have been recognized as late as 6 months of age.
抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』
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