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  • 1. Aims and Scope

    Gut and Liver is an international journal of gastroenterology, focusing on the gastrointestinal tract, liver, biliary tree, pancreas, motility, and neurogastroenterology. Gut atnd Liver delivers up-to-date, authoritative papers on both clinical and research-based topics in gastroenterology. The Journal publishes original articles, case reports, brief communications, letters to the editor and invited review articles in the field of gastroenterology. The Journal is operated by internationally renowned editorial boards and designed to provide a global opportunity to promote academic developments in the field of gastroenterology and hepatology. +MORE

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    Yong Chan Lee Professor of Medicine
    Director, Gastrointestinal Research Laboratory
    Veterans Affairs Medical Center, Univ. California San Francisco
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    Jong Pil Im Seoul National University College of Medicine, Seoul, Korea
    Robert S. Bresalier University of Texas M. D. Anderson Cancer Center, Houston, USA
    Steven H. Itzkowitz Mount Sinai Medical Center, NY, USA
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Clinical and Genetic Characteristics of Korean Patients Diagnosed with Chronic Enteropathy Associated with SLCO2A1 Gene: A KASID Multicenter Study

Hee Seung Hong1 , Jiwon Baek2 , Jae Chul Park1 , Ho-Su Lee2 , Dohoon Park2 , A-Ran Yoon1,3 , Soo Jung Park4 , Sung Noh Hong5 , Seong-Joon Koh6 , Chang Kyun Lee7 , Bo-In Lee8 , Sung Wook Hwang1,3,9 , Sang Hyoung Park1,3,9 , Seung-Jae Myung1,9 , Suk-Kyun Yang1,3,9 , Kyuyoung Song2 , and Byong Duk Ye1,3,9 , on behalf of the IBD Research Group of the Korean Association for the Study of Intestinal Diseases

1Department of Gastroenterology, Asan Medical Center, University of Ulsan College of Medicine, 2Department of Biochemistry and Molecular Biology, University of Ulsan College of Medicine, 3Inflammatory Bowel Disease Center, Asan Medical Center, University of Ulsan College of Medicine, 4Department of Internal Medicine and Institute of Gastroenterology, Severance Hospital, Yonsei University College of Medicine, 5Division of Gastroenterology, Department of Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, 6Department of Internal Medicine and Liver Research Institute, Seoul National University College of Medicine, 7Center for Crohn’s and Colitis, Department of Gastroenterology, College of Medicine, Kyung Hee University, 8Division of Gastroenterology, Department of Internal Medicine, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea, and 9Digestive Diseases Research Center, University of Ulsan College of Medicine, Seoul, Korea

Correspondence to:Byong Duk Ye
ORCID https://orcid.org/0000-0001-6647-6325
E-mail bdye@amc.seoul.kr

Hee Seung Hong and Jiwon Baek contributed equally to this work as first authors.

Received: September 6, 2021; Revised: January 4, 2022; Accepted: February 4, 2022

This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

Gut Liver

Published online May 25, 2022

Copyright © Gut and Liver.

Abstract

Background/Aims: Chronic enteropathy associated with SLCO2A1 gene (CEAS), an inherited disease characterized by nonspecific intestinal ulcers, has emerged in the Japanese population via loss-of-function mutations in the SLCO2A1 gene. We aimed to investigate the clinical and genetic characteristics of Korean patients diagnosed with CEAS.
Methods: From July 2018 to July 2021, we performed Sanger sequencing of the SLCO2A1 gene in 46 patients with chronic intestinal ulcers. CEAS was confirmed based on known SLCO2A1 mutations. We summarized the clinical characteristics of patients with confirmed CEAS.
Results: Fourteen out of 46 patients (30.4%) had genetically confirmed CEAS, and two SLCO2A1 variants were detected (splicing site variant c.940+1G>A and nonsense mutation [p.R603X] in SLCO2A1). Twelve patients (85.7%) were females and the median age at diagnosis of CEAS was 44.5 years. All patients presented with abdominal pain, and 13 patients (92.9%) presented with anemia (median hemoglobin, 9.6 g/dL). Ten patients (71.4%) had hypoalbuminemia (median, 2.7 g/dL). The most commonly involved site was the ileum (13/14, 92.9%). Manifestations of primary hypertrophic osteoarthropathy (PHO), such as digital clubbing, pachydermia, and periostosis were observed in five patients (28.6%) and two male patients and one female patient satisfied all major PHO diagnostic criteria.
Conclusions: The clinical and genetic characteristics of Korean patients with confirmed CEAS were similar to those reported in the literature. CEAS should be considered in the differential diagnosis for patients with unexplained chronic nonspecific ulcers of the small intestine.

Keywords: SLCO2A1, Chronic enteropathy associated with SLCO2A1 gene, Korea


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Gut and Liver

Published online May 25, 2022

Copyright © Gut and Liver.

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

Hee Seung Hong1 , Jiwon Baek2 , Jae Chul Park1 , Ho-Su Lee2 , Dohoon Park2 , A-Ran Yoon1,3 , Soo Jung Park4 , Sung Noh Hong5 , Seong-Joon Koh6 , Chang Kyun Lee7 , Bo-In Lee8 , Sung Wook Hwang1,3,9 , Sang Hyoung Park1,3,9 , Seung-Jae Myung1,9 , Suk-Kyun Yang1,3,9 , Kyuyoung Song2 , and Byong Duk Ye1,3,9 , on behalf of the IBD Research Group of the Korean Association for the Study of Intestinal Diseases

1Department of Gastroenterology, Asan Medical Center, University of Ulsan College of Medicine, 2Department of Biochemistry and Molecular Biology, University of Ulsan College of Medicine, 3Inflammatory Bowel Disease Center, Asan Medical Center, University of Ulsan College of Medicine, 4Department of Internal Medicine and Institute of Gastroenterology, Severance Hospital, Yonsei University College of Medicine, 5Division of Gastroenterology, Department of Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, 6Department of Internal Medicine and Liver Research Institute, Seoul National University College of Medicine, 7Center for Crohn’s and Colitis, Department of Gastroenterology, College of Medicine, Kyung Hee University, 8Division of Gastroenterology, Department of Internal Medicine, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea, and 9Digestive Diseases Research Center, University of Ulsan College of Medicine, Seoul, Korea

Correspondence to:Byong Duk Ye
ORCID https://orcid.org/0000-0001-6647-6325
E-mail bdye@amc.seoul.kr

Hee Seung Hong and Jiwon Baek contributed equally to this work as first authors.

Received: September 6, 2021; Revised: January 4, 2022; Accepted: February 4, 2022

This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Background/Aims: Chronic enteropathy associated with SLCO2A1 gene (CEAS), an inherited disease characterized by nonspecific intestinal ulcers, has emerged in the Japanese population via loss-of-function mutations in the SLCO2A1 gene. We aimed to investigate the clinical and genetic characteristics of Korean patients diagnosed with CEAS.
Methods: From July 2018 to July 2021, we performed Sanger sequencing of the SLCO2A1 gene in 46 patients with chronic intestinal ulcers. CEAS was confirmed based on known SLCO2A1 mutations. We summarized the clinical characteristics of patients with confirmed CEAS.
Results: Fourteen out of 46 patients (30.4%) had genetically confirmed CEAS, and two SLCO2A1 variants were detected (splicing site variant c.940+1G>A and nonsense mutation [p.R603X] in SLCO2A1). Twelve patients (85.7%) were females and the median age at diagnosis of CEAS was 44.5 years. All patients presented with abdominal pain, and 13 patients (92.9%) presented with anemia (median hemoglobin, 9.6 g/dL). Ten patients (71.4%) had hypoalbuminemia (median, 2.7 g/dL). The most commonly involved site was the ileum (13/14, 92.9%). Manifestations of primary hypertrophic osteoarthropathy (PHO), such as digital clubbing, pachydermia, and periostosis were observed in five patients (28.6%) and two male patients and one female patient satisfied all major PHO diagnostic criteria.
Conclusions: The clinical and genetic characteristics of Korean patients with confirmed CEAS were similar to those reported in the literature. CEAS should be considered in the differential diagnosis for patients with unexplained chronic nonspecific ulcers of the small intestine.

Keywords: SLCO2A1, Chronic enteropathy associated with SLCO2A1 gene, Korea

Gut and Liver

Vol.16 No.3
May, 2022

pISSN 1976-2283
eISSN 2005-1212

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