肠病性肢端皮炎与锌代谢概述。
Acrodermatitis enteropathica and an overview of zinc metabolism.
作者信息
Maverakis Emanual, Fung Maxwell A, Lynch Peter J, Draznin Michelle, Michael Daniel J, Ruben Beth, Fazel Nasim
机构信息
Department of Dermatology, University of California-Davis, Sacramento, CA 95816, USA.
出版信息
J Am Acad Dermatol. 2007 Jan;56(1):116-24. doi: 10.1016/j.jaad.2006.08.015. Epub 2006 Oct 30.
Acrodermatitis enteropathica is a rare autosomal recessive disorder of zinc deficiency. The genetic defect has been mapped to 8q24 and the defective gene identified as SLC39A4, which encodes the zinc transporter Zip4. The diagnosis is made by way of clinical presentation together with histopathology and laboratory tests. Here we provide an overview of zinc metabolism and a description of inherited and acquired zinc deficiency.
肠病性肢端皮炎是一种罕见的常染色体隐性锌缺乏症。该基因缺陷已定位到8q24，缺陷基因被鉴定为SLC39A4，它编码锌转运蛋白Zip4。诊断通过临床表现、组织病理学和实验室检查来做出。在此我们提供锌代谢的概述以及对遗传性和获得性锌缺乏的描述。
Zotero 插件