一例锌缺乏患者的SLC39A4基因突变检测并文献复习

目的：检测1例锌缺乏患者SLC39A4基因的突变，并对国内外报道的肠病性肢端皮炎和获得性锌缺乏的文献进行回顾性分析。方法：提取患者外周血DNA，采用聚合酶链式反应(Polymerase Chain Reaction, PCR)和DNA直接测序方法检测患者SLC39A4基因的突变。结果：在SLC39A4基因上没有检测出致病突变。文献检索共检索锌缺乏患者139例，结合本院1例，共140例。其中肠病性肢端皮炎患者有84例，获得性锌缺乏患者有56例。肠病性肢端皮炎患者中进行SLC39A4检测的有39例，突变检出率为100%，其中预后需要长期补锌治疗的34例（87.2%）。获得性锌缺乏患者中进行SLC39A4基因检测的有19例，突变检出率为0%，均不需要长期补锌治疗。结论：肠病性肢端皮炎与SLC39A4基因的突变有关，而获得性锌缺乏的发病未发现与SLC39A4基因的突变相关，SLC39A4基因检测对肠病性肢端皮炎和获得性锌缺乏的鉴别有重要意义。

Detection of SLC39A4 gene mutation in one patient with zinc deficiency and literatures review

Objective: To detect the genetic mutations in a patient with zinc deficiency and retrospective analyze of the relevant literatures. Methods: DNA was extracted from the peripheral blood samples and the mutation of SLC39A4 gene was detected by PCR amplification and direct sequencing. Results: Pathogenic mutations in gene SLC39A4 were not detected in this patient. The total 140 cases (139 cases from relevant literatures and 1 case from our hospital) included 84 patients with acrodermatitis enteropathica (AE) and 56 patients with acquired zinc deficiency. The SLC39A4 mutation detection was performed in 39 patients with AE and 19 patients with acquired zinc deficiency. The mutation detection rate in patients with AE and acquired zinc deficiency were 100% and 0%,respectively. Thirty four (87.2%) patients with AE and no patient with acquired zinc deficiency needed long-term zinc supplementation treatment. Conclusion: The patients with AE always have SLC39A4 mutation and those with acquired zinc deficiency have no SLC39A4 gene mutation. The detection of SLC39A4 plays an important role in the differential diagnosis between AE and acquired zinc deficiency.