摘要
目的分析SLCO_(2)A1基因相关的慢性肠病(chronic enteropathy associated with SLCO_(2)A1 gene,CEAS)的临床特点。方法检索中国知网、PubMed、万方、Springer、WOS、中华医学会杂志数据库中1991年至2023年国内外CEAS患者的病例资料并进行回顾分析。结果经检索,本研究共纳入亚洲CEAS患者25例,其中中国10例,韩国10例,日本5例,均为东亚人。25例CEAS患者中4例(16.0%)有明确的CEAS家族史;3例(12.0%)父母为明确SLCO_(2)A1基因突变携带者。患者以腹痛为主要临床表现,有少数病例出现腹泻、黑便、杵状指、皮肤增厚等症状。消化内镜下多表现为小肠多灶性炎性改变,其中以回肠最为多见。对患者进行基因测序可发现SLCO_(2)A1基因有不同类型的突变。CEAS患者目前尚无特效治疗方案,无论药物治疗还是手术治疗,大部分治疗方案均无效。结论CEAS患者在东亚相对少见,部分患者有明确家族史,患者临床表现不具有特异性,需要详细鉴别及采取必要的基因检测明确,目前尚无有效的治疗方法。
Objective To analyze the clinical characteristics of chronic enteropathy associated with the SLCO_(2)A1 gene(CEAS).Methods The case data of patients with CEAS at home and abroad from 1991 to 2023 were searched in CNKI,PubMed,WanFang,Springer,WOS and Journal of Chinese Medical Association,and retrospectively analyzed.Results A total of 25 Asian patients with CEAS were included in this study,including 10 cases from China,10 cases from South Korea,and 5 cases from Japan,all of whom were East Asians.Among the 25 patients with CEAS,4 patients(16.0%)had a definite family history of CEAS,and parents of 2 patients(12.0%)carriered SLCO_(2)A1 gene mutations.The main clinical manifestation was abdominal pain,with a few cases also presenting symptoms such as diarrhea,melena,clubbing,skin thickening.Examination frequently revealed multifocal inflammatory changes in the small intestine,with the ileum being the most commonly aflected area.Sequencing the patients'genes revealed different types of mutations in SLCO_(2)A1 genes.There was currently no specific treatment for patients with CEAS,and most of them were ineffective,whether medical or surgical.Conclusion CEAS patients are relatively rare in East Asia,some patients have a clear family history.The clinical manifestations of patients are not specific,requiring detailed identification and necessary genetic testing for confirmation.There are currently no effective treatment methods available.
作者
刘莹
袁岸龙
LIU Ying;YUAN Anlong(Department of Gastroenterology,Xiaogan Hospital,Wuhan University of Science and Technology,Xiaogan 432000;School of Medicine,Wuhan University of Science and Technology,China)
出处
《胃肠病学和肝病学杂志》
2025年第7期981-984,共4页
Chinese Journal of Gastroenterology and Hepatology
