Japanese

Disorders associated with K channel abnormalities Naohide YAMASHITA 1 1Department of Advanced Medical Science, Institute of Medical Science Keyword: PHHI , long QT syndrome , Bartter's syndrome , episodic ataxia , myokymia pp.224-233
Published Date 1998/4/10
DOI https://doi.org/10.11477/mf.1431900839
  • Abstract
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Persistent hyperinsulinemic hypoglycemia of infancy (PHHI), long QT syndrome, Bartter's syndrome and episodic ataxia/myokymia syndrome are caused by mutations of the potassium channel genes. Abnormalities of potassium channel genes are also explored in non-insulin dependent diabetes mellitus (NIDDM), although definite associations between NIDDM and the potassium channel gene mutations have not been established. In PHHI there are mutations in the second nucleotide binding fold (NBF-2) of the SUR gene and the normal NFB-2 is not formed. Consequently the function of KATP is impaired, which causes hyperinsulinemia.


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電子版ISSN 1882-1243 印刷版ISSN 0001-8724 医学書院

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