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Development of Crohn’s Disease in a Child With SLC26A3-related Congenital Chloride Diarrhea: Report of the First Case in East Asia and a Novel Missense Variant
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참고문헌 (10)
- Wedenoja S, "Update on SLC26A3 mutations in congenital chloride diarrhea", Hum Mutat, 32, pp.715~722 (2011)
- Hihnala S, "Long-term clinical outcome in patients with congenital chloride diarrhea", J Pediatr Gastroenterol Nutr, 42, pp.369~375 (2006)
- Rachel Elizabeth Harris, "Congenital chloride-losing diarrhoea and Crohn’s disease: a diagnostic and therapeutic challenge", Frontline Gastroenterology, 12(2), pp.151~153 (2021), BMJ[DOI]
- Norsa L, "Potential association between congenital chloride diarrhea and inflammatory bowel disease", Dig Liver Dis, 48, pp.e268~ (2016)
- Hong J, "Congenital chloride diarrhea in Korean children: novel mutations and genetic characteristics", Eur J Pediatr, 172, pp.545~550 (2013)
- Richards S, "Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology", Genet Med, 17, pp.405~424 (2015)
- Levine A, "Pediatric modification of the Montreal classification for inflammatory bowel disease: the Paris classification", Inflamm Bowel Dis, 17, pp.1314~1321 (2011)
- Xiao F, "Slc26a3 deficiency is associated with loss of colonic HCO3- secretion, absence of a firm mucus layer and barrier impairment in mice", Acta Physiol (Oxf), 211, pp.161~175 (2014)
- Yang H, "Intestinal inflammation reduces expression of DRA, a transporter responsible for congenital chloride diarrhea", Am J Physiol, 275, pp.G1445~G1453 (1998)
- Ding X, "Tumor necrosis factor-α acts reciprocally with solute carrier family 26, member 3, (downregulated-inadenoma) and reduces its expression, leading to intestinal inflammation", Int J Mol Med, 41, pp.1224~1232 (2018)
관련 논문AI추천
Novel Mutation of SLC26A3 Gene Observed in Congenital Chloride DiarrheaJi Hye Cheon, Na Li Yu, Na Mi Lee대한신생아학회 · Neonatal medicine2023 · 제30권 제3호Identification of SLC26A3 Mutations in a Korean Patient with Congenital Chloride Diarrhea기창석, 이은실, Ah Ra Cho대한진단검사의학회 · Annals of Laboratory Medicine2012 · 제32권 제4호Congenital Chloride Diarrhea in Dizygotic Twins김광준, 서경아, 유병훈, 윤신원, 이나미, 임인석, 채수안, 최응상대한소아소화기영양학회 · Pediatric Gastroenterology, Hepatology & Nutrition2013 · 제16권 제3호Oral Proton Pump Inhibitor for Treatment of Congenital Chloride Diarrhea정해일, Hee Cheol Jo, Jang Hoon Lee, Jong Seo Yoon, Joo Young Jang, Moon Sung Park, Young Bae Sohn대한신생아학회 · Neonatal medicine2016 · 제23권 제1호Novel ATP8B1 Gene Mutations in a Child with Progressive Familial Intrahepatic Cholestasis Type 1Beom Hee Lee, Eun Sang Rhee, Han-Wook Yoo, Kyung Mo Kim, Seak Hee Oh, Sunghee Lee, Yu Bin Kim대한소아소화기영양학회 · Pediatric Gastroenterology, Hepatology & Nutrition2019 · 제22권 제5호Higher Morbidity of Monogenic Inflammatory Bowel Disease Compared to the Adolescent Onset Inflammatory Bowel Disease문진수, Eun Joo Lee, Hye Ran Yang, Jae Sung Ko, Ju Whi Kim, Ju Young Jang, Kwang Yeon Kim대한소아소화기영양학회 · Pediatric Gastroenterology, Hepatology & Nutrition2018 · 제21권 제1호
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