[MIM 214 700]

(DIAR1)

Unknown prevalence as it is very rare. Autosomal recessive transmission of a mutation of gene SLC26A3  (7q22.3-q31.1) which causes a malfunction of the exchange of Cl- /NaHCO3- at the intestinal level. This causes a very abundant watery diarrhea with a chloride content > 150 mmol/L, and a dehydration with hypokalemia and metabolic alkalosis. Hydramnios is often present in utero: fetal diarrhea ?

The dehydration causes hyperplasia of the juxtaglomerular apparatus with hyperreninemia and hyperaldosteronemia, which explains hyperkaliuria.

Treatment: omeprazole, KCl supplements, NSAIDS.

Anesthetic implications:

check hydration and electrolytes; side-effects of parenteral nutrition: vascular thrombosis, repeated sepsis, liver involvement (cholestasis, progressive fibrosis and biliary cirrhosis)..

References : 

Updated: October 2016