Chronic diarrhea by hyperactivity of guanylate cyclase 2C

(DIAR6)

Prevalence < 1/106. Autosomal dominant transmission of a mutation of gene GUCY2C on 12p12.3. Onset in childhood. Severe diarrhea with abdominal distension (3-4 stools per day). It seems associated with episodes of occlusion of the small bowell, with later appearance of inflammatory disorders of the digestive tract (Crohn's disease) and with esophagitis. Risk of a secondary deficiency in vitamin B12.


Anesthetic implications: 

check hydration and electrolytes


References : 


Updated: October 2016