[MIM 270 420, 616 868]

(DIAR8, DIAR3)

Unknown prevalence as it is very rare. Autosomal recessive transmission of a mutation:

-        of the SPINT2 gene (19q13.1) (known as syndromic): often associated with a choanal, rectal or esophageal atresia; hypertelorism, corneal erosions (non specific punctate keratitis), fingers anomalies (syndactyly), cleft palate

-        or of the NHE3 gene (SLC9A3) (5p15)  (known as non-syndromic)

It causes a malfunction of the exchange Na / H at the intestinal level. This results in a very abundant watery diarrhea with a sodium content > 100 mmol/L, and thus hyponatremia with metabolic acidosis.

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: June 2021