Clinical features of chronic enteropathy associated with SLCO2A1 gene: a new entity clinically distinct from Crohn’s disease View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2018-01-08

AUTHORS

Junji Umeno, Motohiro Esaki, Atsushi Hirano, Yuta Fuyuno, Naoki Ohmiya, Shigeyoshi Yasukawa, Fumihito Hirai, Shuji Kochi, Koichi Kurahara, Shunichi Yanai, Keiichi Uchida, Shuhei Hosomi, Kenji Watanabe, Naoki Hosoe, Haruhiko Ogata, Tadakazu Hisamatsu, Manabu Nagayama, Hironori Yamamoto, Daiki Abukawa, Fumihiko Kakuta, Kei Onodera, Toshiyuki Matsui, Toshifumi Hibi, Tsuneyoshi Yao, Takanari Kitazono, Takayuki Matsumoto, The CEAS study group

ABSTRACT

BackgroundChronic enteropathy associated with SLCO2A1 gene (CEAS) is a hereditary disease caused by mutations in the SLCO2A1 gene and characterized by multiple small intestinal ulcers of nonspecific histology. SLCO2A1 is also a causal gene of primary hypertrophic osteoarthropathy (PHO). However, little is known about the clinical features of CEAS or PHO.MethodsSixty-five Japanese patients recruited by a nationwide survey of CEAS during 2012–2016 were enrolled in this present study. We reviewed the clinical information of the genetically confirmed CEAS patients.ResultsWe identified recessive SLCO2A1 mutations at 11 sites in 46 patients. Among the 46 patients genetically confirmed as CEAS, 13 were men and 33 were women. The median age at disease onset was 16.5 years, and parental consanguinity was present in 13 patients (28%). Anemia was present in 45 patients (98%), while a single patient experienced gross hematochezia. All patients showed relatively low inflammatory markers in blood tests (median CRP 0.20 mg/dl). The most frequently involved gastrointestinal site was the ileum (98%), although no patient had mucosal injuries in the terminal ileum. Mild digital clubbing or periostosis was found in 13 patients (28%), with five male patients fulfilling the major diagnostic criteria of PHO.ConclusionsThe clinical features of CEAS are distinct from those of Crohn’s disease. Genetic analysis of the SLCO2A1 gene is therefore recommended in patients clinically suspected of having CEAS. More... »

PAGES

907-915

Journal

TITLE

Journal of Gastroenterology

ISSUE

8

VOLUME

53

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s00535-017-1426-y

DOI

http://dx.doi.org/10.1007/s00535-017-1426-y

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1100246955

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/29313109


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