特应性皮炎与丝聚蛋白研究进展

Update of atopic dermatitis and filaggrin

丝聚蛋白(FLG)基因的失功能突变可使表皮FLG含量减少或缺失,进而引起表皮屏障功能发生改变,增加特应性皮炎(AD)的患病风险。本文对FLG在表皮屏障形成中的作用、FLG基因结构、FLG基因在AD患者中的突变情况及FLG基因突变与AD临床表型的相关性进行综述。

The mutations of loss-of-function in the gene of filaggrin （ FLG） result in decrease or deficiency of FLG content in epiderma, leading to the change of epidermal barrier function and increasing the risk of atopic dermatitis （ AD） . The role of FLG in the formation of epidermal barrier, the structure of FLG gene, the mutations in the FLG gene in the patients with AD and the relationship between the clinical phenotype of AD and FLG gene mutations are reviewed in this paper.