SLCO2A1基因相关慢性肠病临床特点及遗传学特征分析

Clinical and genetic characteristics of patients with chronic enteropathy associated with SLCO2A1 gene

目的:总结分析SLCO2A1基因相关慢性肠病(CEAS)的临床特点及遗传学特征。方法:回顾性分析2012年1月至2019年12月北京协和医院收治的5例CEAS的病例,分析其临床表现、实验室检查、影像学及内镜检查、治疗转归以及家系特点和基因检测结果。结果:5例患者均为男性,胃肠道症状在青春期后出现。主要表现为腹痛、腹泻、间歇性黑便或便血、不全肠梗阻,以及贫血、低白蛋白血症、低钾血症。除食管外的全胃肠道均可受累,以胃及回肠为最常见。小肠病变特征为多发浅溃疡并肠腔狭窄,累及黏膜层及黏膜下层。5例患者均伴发原发性肥厚性骨关节病,1例伴发骨髓纤维化及胸导管发育异常。基因检测提示5例患者均为SLCO2A1基因纯合突变或复合杂合突变。炎症性肠病的常规治疗方法及COX-2抑制剂对该病无效。结论:CEAS是一种可广泛累及胃肠道的常染色体隐性遗传病,可伴发皮肤及骨骼受累,目前尚无特效治疗药物,临床上需注意与其他炎症性胃肠道疾病相鉴别。

Objective To determine the clinical features and genetic characters of patients with chronic enteropathy associated SLCO2A1gene(CEAS).Methods Five CEAS patients diagnosed at Peking Union Medical College Hospital from January 2012 to December 2019 were enrolled in this study.The clinical manifestations,laboratory test,radiological and endoscopic findings,gene detections,treatments and prognosis of these patients were reviewed and analyzed.Results Five male patients presented gastrointestinal symptoms after puberty,including abdominal pain,diarrhea,intermittent melena or hematochezia,incomplete bowel obstruction,anemia,hypoalbuminemia and hypokalemia.The whole gastrointestinal tract except esophagus could be involved,especially the stomach and ileum.Intestinal lesions were characterized by multiple shallow ulcers with stenosis in the layers of mucosa and submucosa.Five patients were all accompanied with primary hypertrophic osteoarthropathy(PHO),and 1 with myelofibrosis and thoracic duct dysplasia.All patients were homozygous or compound heterozygous mutations of SLCO2A1gene.Conventional treatment of inflammatory bowel disease and COX-2 inhibitors were ineffective.Conclusions CEAS is an autosomal recessive genetic disease which widely involves the gastrointestinal tract,and can be associated with skin and bone involvement.There is no effective treatment for CEAS at present.CEAS is a different entity from other inflammatory gastrointestinal diseases.