What is it about?
Presentation of a patient with an acute diarrhoeal episode. Laboratory investigations confirmed metabolic alkalosis and severe hypochloraemia, consistent with her underlying CCD. This contrasts with most other forms of diarrhoea, which are normally associated with metabolic acidosis. Genetic testing was offered and revealed a homozygous non-sense mutation in SLC26A3 (Gly-187-Stop). This case summarises the pathophysiology and management of CCD.
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Why is it important?
A differential for a diagnosis in diarrhea
Perspectives
Symptomatic management with daily NaCl and KCl oral syrups was supplemented with omeprazole therapy is a soltion to treatment, once diagnosed.
Dr Mohamud Verjee
University of Calgary
Read the Original
This page is a summary of: Rare mutation in the SLC26A3 transporter causes life-long diarrhoea with metabolic alkalosis, BMJ Case Reports, January 2015, BMJ,
DOI: 10.1136/bcr-2014-206849.
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