Chloride type congenital secretory diarrhea
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Synopsis
Patients will have a profuse watery diarrhea that occurs independent of food exposures or time of day. They will not have blood or mucus in the bowel movements in most instances. Abdominal pain is unlikely to be a hallmark complaint. Bloating and abdominal discomfort from a high frequency of bowel movements is likely.
Newborns with congenital chloridorrhea will often be born prematurely with a history of polyhydramnios, failure to thrive, growth retardation, metabolic alkalosis, dehydration, and hypokalemia. They often lack meconium and have distended abdomens.
This is a rare genetic disorder that has been described in many families of Middle Eastern ancestry, although it has been diagnosed in other populations as well. It is thought to be caused by a mutation in the SLC26A3 (solute carrier family 26, member 3) gene.
Codes
ICD10CM:K90.89 – Other intestinal malabsorption
SNOMEDCT:
24412005 – Congenital secretory diarrhea, chloride type
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Differential Diagnosis & Pitfalls
- Toddler diarrhea
- Protein-losing enteropathy
- Irritable bowel syndrome
- Postinfectious irritable bowel syndrome
- Inflammatory bowel disease (eg, Crohn disease, ulcerative colitis)
- Bile acid diarrhea
- Lactose intolerance
- Microscopic and collagenous colitis
- Pancreatic insufficiency (due to cystic fibrosis, chronic pancreatitis, etc)
- Neuroendocrine tumor (eg, gastrinoma, VIPoma, mastocytosis)
- Laxative abuse
- Celiac disease
- Eosinophilic gastroenteritis
- Autoimmune enteropathy
- Infectious diarrhea (viral, bacterial, fungal, parasitic)
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Last Reviewed:09/30/2018
Last Updated:06/14/2022
Last Updated:06/14/2022