ArticleBMJ case reports2015
Rare mutation in the SLC26A3 transporter causes life-long diarrhoea with metabolic alkalosis.
Article in BMJ case reports, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers, 1 of them a synthesis that pooled it.
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Who cites it
4 citing papers in PubMed, 1 synthesis or guideline pooled it, 4 citations in OpenAlex.
- Congenital chloride diarrhea clinical features and management: a systematic review.Pediatric research · 2021Pooled it
- Congenital chloride losing diarrhea: A single center experience in a highly consanguineous population.Medicine · 2019Article
- Functional characterization of SLC26A3 c.392C>G (p.P131R) mutation in intestinal barrier function using CRISPR/CAS9-created cell models.Cell & bioscience · 2019Article
- Congenital diarrhoeal disorders: advances in this evolving web of inherited enteropathies.Nature reviews. Gastroenterology & hepatology · 2015Review
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Authors and funding
2 authors at 2 institutions in 2 countries.
Funding
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Abstract
SLC26A3, a chloride/bicarbonate transporter mainly expressed in the intestines, plays a pivotal role in chloride absorption. We present a 23-year-old woman with a history of congenital chloride diarrhoea (CCD) and renal transplant who was admitted for rehydration and treatment of acute kidney injury after she presented 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 loss-of-function mutation results in bicarbonate retention in the blood and chloride loss into the intestinal lumen. Symptomatic management with daily NaCl and KCl oral syrups was supplemented with omeprazole therapy. The loss of her own kidneys is most likely due to crystal-induced nephropathy secondary to chronic volume contraction and chloride depletion. This case summarises the pathophysiology and management of CCD.
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