Four Variants of SLCO2A1 Identified in Three Chinese Patients with Chronic Enteropathy Associated with the SLCO2A1 Gene.

Chronic enteropathy associated with the SLCO2A1 gene (CEAS) is an enteropathy characterized by multiple small intestinal ulcers of nonspecific histology, also known as chronic nonspecific multiple ulcers of the small intestine. The SLCO2A1 gene encodes a prostaglandin transporter (PGT). The aim of this study was to investigate the clinical characteristics of ten Chinese patients with intestinal ulcers of unknown origin, screen them for variants of SLCO2A1, and to investigate the expression of PGT in the small intestinal mucosa of patients with CEAS. Ten Chinese patients with intestinal ulcers of unknown origin were included in this study. Blood samples were collected for whole-exome sequencing and Sanger sequencing of candidate gene variants. Immunohistochemical staining was used to investigate the expression of PGT. These ten patients were clinically diagnosed with intestinal ulcers of unknown origin based on criteria established according to earlier publications. Three of them were genetically diagnosed as having CEAS and four candidate variants of the SLCO2A1 gene were identified, among which c.941-1G>A, c.178G>A and c.1681C>T were detected in patients with CEAS for the first time. The terminal ileum was involved in all three patients with CEAS in our study, which was different from the results of Japanese patients. The expression of PGT in the vascular endothelial cells of the intestinal mucosa tissues of patients with CEAS was negative or intermediate. We summarized the clinical data of ten Chinese patients with intestinal ulcers of unknown origin and identified three novel SLCO2A1 variants from three patients with CEAS. This study improves our understanding of CEAS and broadens the spectrum of SLCO2A1 variants known to cause CEAS.

Huang H ，Wang X ，Ou D ，Liu X ，Wu B ，Zhou B ，Wang Y ，Shi X ... -  《-》

Clinical and Genetic Characteristics of Korean Patients Diagnosed with Chronic Enteropathy Associated with SLCO2A1 Gene: A KASID Multicenter Study.

Hong HS ，Baek J ，Park JC ，Lee HS ，Park D ，Yoon AR ，Park SJ ，Hong SN ，Koh SJ ，Lee CK ，Lee BI ，Hwang SW ，Park SH ，Myung SJ ，Yang SK ，Song K ，Ye BD ，IBD Research Group of the Korean Association for the Study of Intestinal Diseases ... -  《-》

Clinical features of chronic enteropathy associated with SLCO2A1 gene: a new entity clinically distinct from Crohn's disease.

Umeno J ，Esaki M ，Hirano A ，Fuyuno Y ，Ohmiya N ，Yasukawa S ，Hirai F ，Kochi S ，Kurahara K ，Yanai S ，Uchida K ，Hosomi S ，Watanabe K ，Hosoe N ，Ogata H ，Hisamatsu T ，Nagayama M ，Yamamoto H ，Abukawa D ，Kakuta F ，Onodera K ，Matsui T ，Hibi T ，Yao T ，Kitazono T ，Matsumoto T ，CEAS study group ... -  《-》

A Hereditary Enteropathy Caused by Mutations in the SLCO2A1 Gene, Encoding a Prostaglandin Transporter.

Umeno J ，Hisamatsu T ，Esaki M ，Hirano A ，Kubokura N ，Asano K ，Kochi S ，Yanai S ，Fuyuno Y ，Shimamura K ，Hosoe N ，Ogata H ，Watanabe T ，Aoyagi K ，Ooi H ，Watanabe K ，Yasukawa S ，Hirai F ，Matsui T ，Iida M ，Yao T ，Hibi T ，Kosaki K ，Kanai T ，Kitazono T ，Matsumoto T ... -  《-》

Chronic Enteropathy Associated With SLCO2A1 Gene [CEAS]-Characterisation of an Enteric Disorder to be Considered in the Differential Diagnosis of Crohn's Disease.

Small intestinal ulcers include mucosal damage caused by drugs, particularly nonsteroidal anti-inflammatory drugs [NSAIDs], infectious diseases, and idiopathic inflammatory bowel disease. Previously, a group of Japanese investigators reported an unusual and uncommon type of enteritis and referred to the condition as chronic nonspecific multiple ulcers of the small intestine [CNSU]. CNSU is characterised by chronic blood and protein loss through persistent small intestinal ulcers. Recently, four candidate mutations in the solute carrier organic anion transporter family, member 2A1 [SLCO2A1] gene, encoding a prostaglandin transporter, were identified by whole-exome sequencing in patients with CNSU. However, because the name 'CNSU' was somewhat ambiguous, the more appropriate nomenclature of 'chronic enteropathy associated with the SLCO2A1 gene' [CEAS] has been suggested. CEAS ulcers are characterised by multiple, circular or eccentric oblique, shallow lesions with discrete margins. The most frequently affected site of CEAS is the ileum, in contrast to 'cryptogenic multifocal ulcerous stenosing enteritis [CMUSE]', for which the most frequent site is the jejunum. Impaired prostaglandin utilisation is thought to cause the small intestinal mucosal damage observed in CEAS, CMUSE, and NSAID-induced enteropathy. This review article focuses on endoscopic and clinical features of genetically diagnosed CEAS, accumulated in a nationwide survey, and illustrates the observations in the format of an atlas.

Hosoe N ，Ohmiya N ，Hirai F ，Umeno J ，Esaki M ，Yamagami H ，Onodera K ，Bamba S ，Imaeda H ，Yanai S ，Hisamatsu T ，Ogata H ，Matsumoto T ，CEAS Atlas Group ... -  《-》