A 58-year old male with a history of small bowel resection and ileostomy presented with severe dehydration and high ostomy output. Laboratory investigation indicated hypochloremia, hypokalemia, hyponatremia, metabolic alkalosis, chloride-rich diarrhea, acute renal failure, and low urinary chloride excretion. Due to striking similarities to congenital chloridorrhea (CCD) reported in neonates, we empirically diagnosed acquired chloridorrhea (ACD, chloride diarrhea). This is a rare disorder resulting in profuse chloride-rich diarrhea and classic metabolic derangements affecting adults with chronic intestinal inflammation, often in association with bowel surgery. In this report, we review the relevant literature and discuss the genetic defects likely contributing to both the congenital and acquired forms of chloridorrhea.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4393485PMC
http://dx.doi.org/10.1093/ckj/sfs082DOI Listing

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