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

摘要

Congenital chloride diarrhea (CCD; MIM#214700) is a rare, autosomal recessive disorder caused by pathogenic variants in the solute carrier family 26 member 3 (SLC26A3; MIM#126650) gene located on chromosome 7q31. SLC26A3 encodes an apical epithelial Cl- /HCO3 - exchanger located in the ileum and colon [1]. The primary defect of the intestinal Cl- /HCO3 - exchanger, which is coupled with a Na /H exchanger, leads to persistent Cl- rich diarrhea from birth and life-threatening metabolic alkalosis [1]. Recently, a potential association between CCD and inflammatory bowel disease (IBD) has been proposed in Europe [2–4]. However, to date, there have been no reports of IBD development in East Asian patients with CCD. This is the first case of Crohn’s disease (CD) developed in a child of East Asian ancestry with genetically confirmed CCD. This study was approved by the Institutional Review Board of Samsung Medical Center (Number 2018-02-007) and was conducted at the Department of Pediatrics, Samsung Medical Center, Seoul, Korea, in 2018. Informed consent was obtained from the patient and his parents.