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)

1. Wedenoja S, "Update on SLC26A3 mutations in congenital chloride diarrhea", Hum Mutat, 32, pp.715~722 (2011)
2. Hihnala S, "Long-term clinical outcome in patients with congenital chloride diarrhea", J Pediatr Gastroenterol Nutr, 42, pp.369~375 (2006)
3. 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]
4. Norsa L, "Potential association between congenital chloride diarrhea and inflammatory bowel disease", Dig Liver Dis, 48, pp.e268~ (2016)
5. Hong J, "Congenital chloride diarrhea in Korean children: novel mutations and genetic characteristics", Eur J Pediatr, 172, pp.545~550 (2013)
6. 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)
7. Levine A, "Pediatric modification of the Montreal classification for inflammatory bowel disease: the Paris classification", Inflamm Bowel Dis, 17, pp.1314~1321 (2011)
8. 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)
9. Yang H, "Intestinal inflammation reduces expression of DRA, a transporter responsible for congenital chloride diarrhea", Am J Physiol, 275, pp.G1445~G1453 (1998)
10. 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)

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