肠病性肢端皮炎研究进展

Advances in Acrodermatitis Enteropathica

肠病性肢端皮炎(acrodermatitis enteropathica,AE)是一种锌缺乏性疾病,本病临床特征为腔口周围及肢端皮炎、秃发和腹泻三联征。临床上AE可由基因突变导致肠道锌吸收障碍引起,称为遗传性AE或典型性AE,也可由各种获得性因素导致锌缺乏所致,后者称为获得性AE或获得性AE样疾病,二者在发病机制、治疗及预后上显著不同。目前发现SLC39A4基因是遗传性AE的致病基因,故SLC39A4基因突变检测可作为区分遗传性AE或获得性AE的重要手段,该文就AE研究的最新进展进行综述。

Acrodermatitis enteropathica is a disease of zinc deficiency, which manifests as the classic clinical triad of periorificial and acral dermatitis, alopecia, and diarrhea. Clinically, AE can be caused by genetic mutations that leads to intestinal zinc absorption disorders, known as hereditary AE or classical AE, and can also be caused by a variety of acquired factors that result in zinc deficiency, which is known as acquired AE or acquired AE like disease. However, both types of AE are significantly different in the pathogenesis, treatment and prognosis. At present SLC39A4 gene is found to be a pathogenic gene of hereditary AE. Hence, SLC39A4 gene mutation detection can be used as an important means to distinguish hereditary AE or acquired AE. This article reviews the latest progress in AE research.