ArticleJournal of gastroenterology2018
Clinical features of chronic enteropathy associated with SLCO2A1 gene: a new entity clinically distinct from Crohn's disease.
Article in Journal of gastroenterology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 45 papers, 1 of them a synthesis that pooled it.
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Who cites it
45 citing papers in PubMed, 1 synthesis or guideline pooled it, 76 citations in OpenAlex.
- Primary hypertrophic osteoarthropathy related gastrointestinal complication has distinctive clinical and pathological characteristics: two cases report and review of the literature.Orphanet journal of rare diseases · 2019Pooled it
- Cryptogenic Multifocal Ulcerating Stenosing Enteritis (CMUSE) in a Patient with Down Syndrome: A Case Report.Reports (MDPI) · 2026Article
- Integrative Proteomics and Phosphoproteomics Profiling of Chronic Enteropathy Associated withBiomedicines · 2026Article
- What we know about prostaglandin pathway dysfunction in chronic enteropathies: From endoscopy to molecular diagnosis.Journal of translational internal medicine · 2026Article
- Is There a Reliable, Rapid, and Economic Diagnostic Approach for SLCO2A1-Related Chronic Enteropathy?Journal of clinical medicine · 2026Article
- Diagnosis of Pediatric Inflammatory Bowel Disease (PIBD)-Implications for the Asia-Pacific Region: A Position Paper from the Asian Pan-Pacific Society for Pediatric Gastroenterology, Hepatology, and Nutrition PIBD Working Group.Pediatric gastroenterology, hepatology & nutrition · 2026Review
- Chronic enteropathy associated with solute carrier organic anion transporter family memberWorld journal of gastrointestinal endoscopy · 2025Article
- Molecular basis of prostaglandin ENature communications · 2025Article
- MUSings on a Crohn's Disease Diagnosis.Digestive diseases and sciences · 2025Article
- Asian-Pacific perspectives on the management of very early-onset inflammatory bowel disease.Intestinal research · 2025Review
- Endocrine Alterations in Patients With Pachydermoperiostosis.The Journal of clinical endocrinology and metabolism · 2025Article
- Pachydermoperiostosis Associated With a Rare SLCO2A1 Mutation: A Case Report and Literature Review.Cureus · 2025Article
- Expert consensus on diagnostic guidelines for pediatric inflammatory bowel disease in Japan.Journal of gastroenterology · 2025Review
- Multiple Ileal and Colonic Stenoses: Is It Always Crohn's Disease?Journal of Crohn's & colitis · 2025Article
- A pediatric patient with chronic enteropathy associated with SLCO2A1 who underwent multimodal treatment including several surgeries: a case report.Frontiers in surgery · 2025Article
- Cryptogenic multifocal ulcerous stenosing enteritis: A ray of light on the umbra of the dark continent.Indian journal of gastroenterology : official journal of the Indian Society of Gastroenterology · 2024Article
- A novel mutation in the SLCO2A1 gene presenting as persistent hypoproteinaemia and refractory iron deficiency anaemia due to chronic enteropathy: a case report.BMC pediatrics · 2024Article
- Characteristics of chronic enteropathy associated with SLCO2A1 gene (CEAS) in children, a unique type of monogenic very early-onset inflammatory bowel disease.BMC pediatrics · 2024Article
- A novel variant in the SLCO2A1 gene in a Chinese patient with chronic gastroenteropathy and primary hypertrophic osteoarthropathy.Orphanet journal of rare diseases · 2024Article
- Pathogenesis of chronic enteropathy associated with theWorld journal of gastroenterology · 2024Review
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Authors and funding
27 authors at 14 institutions in 1 country.
Funding
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.
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