| 家族性良性天疱疮 |
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| 引用本文： | 马红艳,康晓静.家族性良性天疱疮[J].国际皮肤性病学杂志,2008,34(6). |
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| 作者姓名： | 马红艳 康晓静 |
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| 作者单位： | 1. 新疆医科大学研究生学院,乌鲁木齐,830001
2. 新疆维吾尔族自治区人民医院皮肤性病科 |
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| 摘 要： | 家族性良性天疱疮(OMIM16960)是一种少见的常染色体显性遗传病,以皮损多发与躯体皱褶部位、反复发生水疱和大疱为特征.2000年明确其致病基因为ATP2C1,疾病的发生由编码人类分泌途径Ca2+/Mn2+-ATP酶蛋白1(hspcA)的ATP2C1基因的杂合突变引起.目前已经检测到100余种突变点.对文献资料中有关家族性良性天疱疮病因、发病机制、临床表现、病理组织学、治疗等方面的内容进行总结,为家族性良性天疱疮疾病研究提供参考.
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| 关 键 词： | 天疱疮 良性家族性 基因 突变 |
Familial benign pemphigus |
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| MA Hong-yan,KANG Xiao-jing.Familial benign pemphigus[J].International Journal of Dermatology and Venereology,2008,34(6). |
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| Authors: | MA Hong-yan KANG Xiao-jing |
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| Abstract: | Familial benign pemphigus (HHD) is a rare autosomal dominant inherited disorder characterized by recurrent multiple vesicles and bullae predominantly localized in body folds. In 2000, it was confirmed that HHD is caused by a heterozygous mutation in the ATP2C1 gene, which encodes the human secretory pathway Ca2+/Mn2+-ATPase protein 1 (hspcA1). At present, more than 100 kinds of mutation points have been detected. This paper offers an update on the knowledge about the etiology, patbogenesis, clinical manifestations, histopathoiogy, treatment of HHD, so as to provide a theoretic basis for the research of HHD. |
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| Keywords: | Pemphigus benign familial Genes Mutation |
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