肠病性肢端皮炎1例

Acrodermatitis enteropathica:A case report

目的:探讨肠病性肢端皮炎(AE)的发病机制、临床特征及治疗方案。方法:回顾性分析1例婴儿AE的临床资料并检索、复习相关文献。结果:该患儿经补锌治疗后,皮疹基本消退,腹泻停止。结论:AE在临床少见,属常染色体隐性遗传性代谢性疾病,与SLC39A4基因突变密切相关,补锌疗法疗效明确。

Objective:To investigate the pathogenesis,clinical features and therapy of acrodermatitis enteropathica.Methods:The clinical data were retrospectively analyzed in one pediatric case of acrodermatitis enteropathica,and the related literatures were reviewed.Results:After zinc supplementation,the rash basically was subsided and the diarrhea stopped.Conclusion:Acrodermatitis enteropathica,an autosomal-recessive inherited metabolic disease,is rare in clinic.This condition is closely related to the mutation of the SLC39A4 gene,yet can be remediable by zinc supplementation.