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Persistent hyperinsulinemic hypoglycemia of infancy.

作者信息

Cohen M Michael

机构信息

Department of Oral & Maxillofacial Sciences, Pediatrics, Community Health & Epidemiology, Health Services Administration, and Sociology & Social Anthropology, Dalhousie University, Halifax, Nova Scotia, Canada.

出版信息

Am J Med Genet A. 2003 Nov 1;122A(4):351-3. doi: 10.1002/ajmg.a.20480.

DOI:10.1002/ajmg.a.20480
PMID:14518075
Abstract

In persistent hyperinsulinemic hypoglycemia (PHHI) of infancy, secretion of insulin is unregulated, resulting in profound hypoglycemia. Two histopathologic forms are known: focal adenomatous islet-cell hyperplasia and diffuse abnormalities of beta-cell hyperfunction. PHHI is caused by mutations in SUR1, which is a member of the ATP-binding cassette superfamily, and in Kir6.2, which is a member of the inwardly rectifying family of potassium channels.

摘要

相似文献

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