与SLCO2A1基因相关的慢性肠病：一例报告及文献综述

Chronic enteropathy associated with SLCO2A1 gene: A case report and literature review.

作者信息

Hu Peng, He Huiqin, Dai Ning, Zhang Shizheng, Deng Liping

机构信息

Department of Radiology, Zhejiang University School of Medicine, Sir Run Run Shaw hospital, 3 East Qingchun Road, 310016 Hangzhou City, Zhejiang Province, China.

Department of Gastroenterology, Zhejiang University School of Medicine, Sir Run Run Shaw hospital, 310016 Hangzhou City, Zhejiang Province, China.

出版信息

Clin Res Hepatol Gastroenterol. 2019 Oct;43(5):e68-e72. doi: 10.1016/j.clinre.2019.05.003. Epub 2019 Jun 10.

DOI:10.1016/j.clinre.2019.05.003

PMID:31196708

Abstract

A case of chronic enteropathy associated with SLCO2A1 gene (CEAS) is presented. The female patient was readmitted four times during a three-year follow-up period for intractable dropsy and anemia. Multiple ulcers of small bowel wall were revealed by endoscopic examination. Computed tomography enterography (CTE) and magnetic resonance enterography (MRE) showed the segmental wall thickening of the small bowel. Hepatosplenomegaly and increased bone density of spine and pelvis suggested the diagnosis of myelofibrosis. X-ray films showed the cortical thickening of tibiofibula. The mutations of SLCO2A1 gene were revealed by gene test and the diagnosis of CEAS was confirmed. According to our case report, imaging examinations, including CTE, MRE and X-ray films provide additional valuable information during the diagnostic procedure of CEAS.

摘要

本文报告一例与SLCO2A1基因相关的慢性肠病（CEAS）病例。该女性患者在三年随访期间因顽固性水肿和贫血四次入院。内镜检查发现小肠壁有多处溃疡。计算机断层扫描小肠造影（CTE）和磁共振小肠造影（MRE）显示小肠节段性肠壁增厚。肝脾肿大以及脊柱和骨盆骨密度增加提示骨髓纤维化诊断。X线片显示胫腓骨皮质增厚。基因检测发现SLCO2A1基因突变，确诊为CEAS。根据我们的病例报告，包括CTE、MRE和X线片在内的影像学检查在CEAS诊断过程中提供了额外的有价值信息。