Congenital chloride-losing diarrhoea and Crohn's disease: a diagnostic and therapeutic challenge. Issue 2 (19th August 2019)

• Record Type: Journal Article
• Authors: Harris, Rachel Elizabeth; Tayler, Rachel; Russell, Richard K
• Is Part Of: Frontline gastroenterology. Volume 12:Issue 2(2021)
• Page Start: 151
• Page End: 153
• Publication Date: 2019-08-19
• Subjects: inflammatory bowel disease -- crohn's disease -- congenital chloride losing diarrhoea; Gastroenterology -- Periodicals; 616.33005
• DOI: 10.1136/flgastro-2019-101283
• Languages: English
• ISSNs: 2041-4137

Abstract

Abstract : We describe the case of a patient with congenital chloride-losing diarrhoea (CCLD), global developmental delay and intermittent transaminitis who was diagnosed with Crohn's disease after persistent anaemia and onset of rectal bleeding. CCLD is a rare autosomal recessive condition causing large-volume chloride-rich diarrhoea, metabolic alkalosis and potentially life-threatening electrolyte disturbance. A possible association between CCLD and inflammatory bowel disease (IBD) has recently become apparent; however, the underlying mechanism has not been identified, with the role of increased expression of tumour necrosis factor-alpha hypothesised. Early diagnosis and management are key for favourable outcomes within both CCLD and IBD, and understanding a potential link between the two conditions may lead to development of novel therapies and management strategies. We aim to highlight the pathophysiology, diagnosis and management of CCLD; its potential association with IBD; and the potential therapeutic difficulties within the management of patients with comorbid CCLD and IBD.