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.
- inflammatory bowel disease
- crohn’s disease
- congenital chloride losing diarrhoea
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Contributors REH prepared the manuscript with comments and review from all authors. RT and RKR provided critical review of the manuscript. All authors have approved the uploaded draft.
Funding The IBD team at the Royal Hospital for Children, Glasgow are supported by the Catherine McEwan Foundation.
Competing interests RKR has received speaker’s fees, travel support and/or participated in medical board meetings with Nestle, MSD Immunology, AbbVie, Dr Falk, Takeda, Napp, Mead Johnson, Nutricia and 4D Pharma.
Patient consent for publication Parental/guardian consent obtained.
Provenance and peer review Not commissioned; externally peer reviewed.