Clinical features of chronic enteropathy associated with SLCO2A1 gene

a new entity clinically distinct from Crohn’s disease

The CEAS study group

研究成果: Article

7 引用 (Scopus)

抄録

Background: Chronic 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. Methods: Sixty-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. Results: We 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. Conclusions: The 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.

元の言語English
ページ(範囲)907-915
ページ数9
ジャーナルJournal of Gastroenterology
53
発行部数8
DOI
出版物ステータスPublished - 01-08-2018

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Crohn Disease
Genes
Primary Hypertrophic Osteoarthropathy
Ileum
Consanguinity
Mutation
Inborn Genetic Diseases
Gastrointestinal Hemorrhage
Hematologic Tests
Age of Onset
Ulcer
Anemia
Histology

All Science Journal Classification (ASJC) codes

  • Gastroenterology

これを引用

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title = "Clinical features of chronic enteropathy associated with SLCO2A1 gene: a new entity clinically distinct from Crohn’s disease",
abstract = "Background: Chronic 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. Methods: Sixty-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. Results: We 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. Conclusions: The 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.",
author = "{The CEAS study group} and Junji Umeno and Motohiro Esaki and Atsushi Hirano and Yuta Fuyuno and Naoki Ohmiya and Shigeyoshi Yasukawa and Fumihito Hirai and Shuji Kochi and Koichi Kurahara and Shunichi Yanai and Keiichi Uchida and Naoki Omiya and Kenji Watanabe and Naoki Hosoe and Haruhiko Ogata and Tadakazu Hisamatsu and Manabu Nagayama and Hironori Yamamoto and Daiki Abukawa and Fumihiko Kakuta and Kei Onodera and Toshiyuki Matsui and Toshifumi Hibi and Tsuneyoshi Yao and Takanari Kitazono and Takayuki Matsumoto and Hiroyuki Kobayashi and Takashi Watanabe and Kunihiko Aoyagi and Hidehisa Ooi and Masano Akamatsu and Toshihiro Inokuchi and Sakiko Hiraoka and Hiroyuki Imaeda and Eiko Okimoto and Katsuya Endo and Tatsuki Mizuochi and Naohiko Harada and Tomoyuki Tsujikawa and Takeaki Ishii and Mitsuo Iida",
year = "2018",
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doi = "10.1007/s00535-017-1426-y",
language = "English",
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T1 - Clinical features of chronic enteropathy associated with SLCO2A1 gene

T2 - a new entity clinically distinct from Crohn’s disease

AU - The CEAS study group

AU - Umeno, Junji

AU - Esaki, Motohiro

AU - Hirano, Atsushi

AU - Fuyuno, Yuta

AU - Ohmiya, Naoki

AU - Yasukawa, Shigeyoshi

AU - Hirai, Fumihito

AU - Kochi, Shuji

AU - Kurahara, Koichi

AU - Yanai, Shunichi

AU - Uchida, Keiichi

AU - Omiya, Naoki

AU - Watanabe, Kenji

AU - Hosoe, Naoki

AU - Ogata, Haruhiko

AU - Hisamatsu, Tadakazu

AU - Nagayama, Manabu

AU - Yamamoto, Hironori

AU - Abukawa, Daiki

AU - Kakuta, Fumihiko

AU - Onodera, Kei

AU - Matsui, Toshiyuki

AU - Hibi, Toshifumi

AU - Yao, Tsuneyoshi

AU - Kitazono, Takanari

AU - Matsumoto, Takayuki

AU - Kobayashi, Hiroyuki

AU - Watanabe, Takashi

AU - Aoyagi, Kunihiko

AU - Ooi, Hidehisa

AU - Akamatsu, Masano

AU - Inokuchi, Toshihiro

AU - Hiraoka, Sakiko

AU - Imaeda, Hiroyuki

AU - Okimoto, Eiko

AU - Endo, Katsuya

AU - Mizuochi, Tatsuki

AU - Harada, Naohiko

AU - Tsujikawa, Tomoyuki

AU - Ishii, Takeaki

AU - Iida, Mitsuo

PY - 2018/8/1

Y1 - 2018/8/1

N2 - Background: Chronic 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. Methods: Sixty-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. Results: We 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. Conclusions: The 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.

AB - Background: Chronic 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. Methods: Sixty-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. Results: We 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. Conclusions: The 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.

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U2 - 10.1007/s00535-017-1426-y

DO - 10.1007/s00535-017-1426-y

M3 - Article

VL - 53

SP - 907

EP - 915

JO - Journal of Gastroenterology

JF - Journal of Gastroenterology

SN - 0944-1174

IS - 8

ER -