Your browser doesn't support javascript.
loading
Clinical and Genetic Characteristics of Korean Patients Diagnosed with Chronic Enteropathy Associated with SLCO2A1 Gene: A KASID Multicenter Study.
Hong, Hee Seung; Baek, Jiwon; Park, Jae Chul; Lee, Ho-Su; Park, Dohoon; Yoon, A-Ran; Park, Soo Jung; Hong, Sung Noh; Koh, Seong-Joon; Lee, Chang Kyun; Lee, Bo-In; Hwang, Sung Wook; Park, Sang Hyoung; Myung, Seung-Jae; Yang, Suk-Kyun; Song, Kyuyoung; Ye, Byong Duk.
Afiliación
  • Hong HS; Department of Gastroenterology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
  • Baek J; Department of Biochemistry and Molecular Biology, University of Ulsan College of Medicine, Seoul, Korea.
  • Park JC; Department of Gastroenterology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
  • Lee HS; Department of Biochemistry and Molecular Biology, University of Ulsan College of Medicine, Seoul, Korea.
  • Park D; Department of Biochemistry and Molecular Biology, University of Ulsan College of Medicine, Seoul, Korea.
  • Yoon AR; Department of Gastroenterology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
  • Park SJ; Inflammatory Bowel Disease Center, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
  • Hong SN; Department of Internal Medicine and Institute of Gastroenterology, Severance Hospital, Yonsei University College of Medicine, Seoul, Korea.
  • Koh SJ; Division of Gastroenterology, Department of Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
  • Lee CK; Department of Internal Medicine and Liver Research Institute, Seoul National University College of Medicine, Seoul, Korea.
  • Lee BI; Center for Crohn's and Colitis, Department of Gastroenterology, College of Medicine, Kyung Hee University, Seoul, Korea.
  • Hwang SW; Division of Gastroenterology, Department of Internal Medicine, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea.
  • Park SH; Department of Gastroenterology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
  • Myung SJ; Inflammatory Bowel Disease Center, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
  • Yang SK; Digestive Diseases Research Center, University of Ulsan College of Medicine, Seoul, Korea.
  • Song K; Department of Gastroenterology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
  • Ye BD; Inflammatory Bowel Disease Center, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
Gut Liver ; 16(6): 942-951, 2022 11 15.
Article en En | MEDLINE | ID: mdl-35611666
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.
Asunto(s)
Palabras clave
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedades Inflamatorias del Intestino / Transportadores de Anión Orgánico Tipo de estudio: Clinical_trials / Diagnostic_studies / Risk_factors_studies Límite: Adult / Female / Humans / Male País/Región como asunto: Asia Idioma: En Revista: Gut Liver Año: 2022 Tipo del documento: Article Pais de publicación: Corea del Sur
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedades Inflamatorias del Intestino / Transportadores de Anión Orgánico Tipo de estudio: Clinical_trials / Diagnostic_studies / Risk_factors_studies Límite: Adult / Female / Humans / Male País/Región como asunto: Asia Idioma: En Revista: Gut Liver Año: 2022 Tipo del documento: Article Pais de publicación: Corea del Sur