SLCO2A1基因相关慢性肠病研究进展  

Advances of chronic enteropathy associated with SLCO2A1 gene

作　　者：袁伟(综述) 黄永坤(审校)[1] Yuan Wei;Huang Yongkun(Department of Pediatrics,the First Affiliated Hospital,Kunming Medical University,Kunming 650032,China)

机构地区：[1]昆明医科大学第一附属医院儿科,650032

出　　处：《国际儿科学杂志》2023年第3期200-204,共5页International Journal of Pediatrics

摘　　要：溶质载体有机阴离子转运蛋白家族成员2A1(solute carrier organic anion transporter family member 2A1,SLCO2A1)基因相关慢性肠病(chronic enteropathy associated with SLCO2A1 gene,CEAS)是一种因SLCO2A1基因突变所致的常染色体隐性遗传病,特征在于持续性、顽固性、非特异性小肠溃疡导致血液和蛋白质慢性丢失。目前CEAS发病机制尚不明确,内镜检查可见特异性小肠溃疡及肠腔狭窄,病变部位以回肠为主。因发病罕见,且临床表现与克罗恩病、非甾体抗炎药相关性肠病等疾病相似,临床容易混淆。治疗上尚未建立有效的方法,可予补铁、输血及肠内或肠外营养对症治疗,病情严重时可行外科治疗,但均疗效短暂,通常在治疗结束后病情反复,生命预后尚不明确。Chronic enteropathy associated with solute carrier organic anion transporter family member 2A1 gene(CEAS)is an autosomal recessive disease caused by SLCO2A1 gene mutation.Characterized by Persistent,intractable,nonspecific intestinal ulcers that lead to chronic loss of blood and protein.At present,pathogenesis of CEAS is still unclear.Endoscopic examination shows specific intestinal ulcers and intestinal stenosis,which mainly involves ileum.Due to its rare occurrence and similar clinical manifestations with Crohn′s disease and non-steroidal anti-inflammatory drug related bowel disease,it is easy to be confused clinically.No effective treatment has been established,and iron supplementation,blood transfusion and parenteral or enteral nutrition can be given symptomatic treatment.Surgical treatment is feasible in serious condition,however,all of them can only get a temporary effect.Usually,after the end of treatment,the disease relapses,and the life prognosis is not clear.

关 键 词：SLCO2A1基因 小肠溃疡 贫血 低蛋白血症 

分 类 号：R574[医药卫生—消化系统]