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논문 기본 정보

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학술저널
저자정보
Hong Hee Seung (Department of Gastroenterology Asan Medical Center University of Ulsan College of Medicine Seoul Ko) Baek Jiwon (Department of Biochemistry and Molecular Biology University of Ulsan College of Medicine Seoul Kore) Park Jae Chul (Department of Gastroenterology Asan Medical Center University of Ulsan College of Medicine Seoul Ko) Lee Ho-Su (Department of Biochemistry and Molecular Biology University of Ulsan College of Medicine Seoul Kore) Park Dohoon (Department of Biochemistry and Molecular Biology University of Ulsan College of Medicine Seoul Kore) Yoon A-Ran (Department of Gastroenterology Asan Medical Center University of Ulsan College of Medicine Seoul Ko) Park Soo Jung (Department of Internal Medicine and Institute of Gastroenterology Severance Hospital Yonsei Univers) Hong Sung Noh (Division of Gastroenterology Department of Medicine Samsung Medical Center Sungkyunkwan University) Koh Seong-Joon (Department of Internal Medicine and Liver Research Institute Seoul National University College of M) Lee Chang Kyun (Center for Crohn’s and Colitis Department of Gastroenterology College of Medicine Kyung Hee Univers) Lee Bo-In (Division of Gastroenterology Department of Internal Medicine Seoul St. Mary's Hospital College of M) Hwang Sung Wook (Department of Gastroenterology Asan Medical Center University of Ulsan College of Medicine Seoul Ko) Park Sang Hyoung (Department of Gastroenterology Asan Medical Center University of Ulsan College of Medicine Seoul Ko) Myung Seung-Jae (Department of Gastroenterology Asan Medical Center University of Ulsan College of Medicine Seoul Ko) Yang Suk-Kyun (Department of Gastroenterology Asan Medical Center University of Ulsan College of Medicine Seoul Ko) Song Kyuyoung (Department of Biochemistry and Molecular Biology University of Ulsan College of Medicine Seoul Kore) Ye Byong Duk (Department of Gastroenterology Asan Medical Center University of Ulsan College of Medicine Seoul Ko)
저널정보
거트앤리버 발행위원회 Gut and Liver Gut and Liver 제16권 제6호
발행연도
2022.11
수록면
942 - 951 (10page)
DOI
10.5009/gnl210415

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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.
#SLCO2A1 #Chronic enteropathy associated with SLCO2A1 gene #Korea

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