外胚层发育不全发病机理及诊断的研究进展

摘要/Abstract

摘要： 外胚层发育不全（ectodermal dysplasia，ED)是一组外胚层结构发育不全而导致发育缺陷的先天性遗传病，包括有汗型外胚层发育不全(hydrotic ectodermal dysplasia)和少汗型外胚层发育不全(hypohydrotic ectodermal dysplasia，HED)。该病的典型症状在男性患者中表现明显，而女性患者通常无临床症状或仅表现部分症状。本综述就该病的诊断、发病机理及临床干预等方面进行阐述。

关键词: 外胚层发育不全, EDA, 基因诊断

Abstract: Ectodermal dysplasia (ED) is a group of congenital genetic diseases caused by ectodermal structural hypoplasia, including hydrotic ectodermal dysplasia and hypohidrotic ectodermal dysplasia (HED).The phenotypical manifestations of this disease are obvious in male patients, while female patients usually have no clinical symptoms or only partial symptoms.In this review we describe the diagnosis, pathogenesis and clinical intervention of the disease.

Key words: ectodermal dysplasia, EDA, genetic diagnosis

王萍汤春波. 外胚层发育不全发病机理及诊断的研究进展[J]. 口腔生物医学, 2022, 13(2): 130-134.

Ping WANG. Research progress on the pathogenesis and diagnosis of ectodermal dysplasia[J]. Oral Biomedicine, 2022, 13(2): 130-134.

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