背景:短暂性症状锌缺乏(TSZD),一种后天缺锌,是一种罕见的,但可能是认识不足的疾病,极端在母乳喂养早产低出生体重婴儿。其临床表现与肠病肢端皮炎(AE)相似,这是一种由SLC39A4基因突变引起的遗传性锌吸收障碍。该基因编码锌/铁调节的转运蛋白(ZIP)家族的成员。编码的蛋白质定位于细胞膜,并且是肠道中锌吸收所必需的。TSZD经常被误诊为AE,因为他们的表现非常相似,以典型的皮疹为特征。因此,它们之间的区别仍然是一个临床挑战。
方法:这里,我们介绍了一个TSZD在4个月和23天的女性中国彝族早产AE样皮肤病变,主要表现为历史性的,肛周和会阴结痂,侵蚀,红斑鳞状爆发。实验室检查显示患者的血锌水平明显下降。对SLC39A4基因的进一步测序显示,婴儿及其父母没有突变。最初补锌6天后(3mg/kg/d),皮肤病变显着改善,8个月后停止1mg/kg/天锌的维持治疗,无复发。
结论:TSZD和AE的临床表现极为相似,导致临床误诊率高。而SLC39A4基因的遗传分析是区分TSZD与AE的可靠方法。建议对AE样皮疹患儿尽量进行SLC39A4基因检测。
BACKGROUND: Transient symptomatic zinc deficiency (TSZD), an acquired type of zinc deficiency, is a rare, but probably underrecognized disease, extremely in breastfed premature with low birthweight infants. Its clinical manefestations are similar to Acrodermatitis enteropathica (AE), which is a genetic zinc absorption disorder caused by SLC39A4 gene mutations. This gene encodes a member of the zinc/iron-regulated transporter-like protein (ZIP) family. The encoded protein localizes to cell membranes and is required for zinc uptake in the intestine. TSZD is often misdiagnosed as AE because of their extremely similar manefestations, characterized by a typical rash. Therefore, the differention between them is still a clinical challenging.
METHODS: Here, we present a case of TSZD in a 4 month and 23 days female Chinese Yi-ethnic premature with AE-like skin lesions, mainly presenting periorificial, perianal and perineal crusted, eroded, erythemato-squamous eruption. Laboratory examination showed the patient\'s blood zinc level was significantly decreased. Further sequencing of the SLC39A4 gene showed no mutation in the infant and her parents. Skin lesions significantly improved after 6 days of initial zinc supplementation (3 mg/kg/d), and maintenance treatment with 1 mg/kg/day of zinc was discontinued after 8 months without recurrence.
CONCLUSIONS: The clinical manifestations of TSZD and AE are extremely similar, leading to a high rate of clinical misdiagnosis. While genetic analysis of the SLC39A4 gene is a reliable method for differentiating TSZD from AE. It is recommended that SLC39A4 gene test should be performed as far as possible in children with AE-like rash.