diarrhoea type 3, secretory sodium, congenital

diarrhoea type 3, secretory sodium, congenital

An extremely rare (24 cases in the world literature) inherited form of diarrhoea (OMIM:270420) of infant onset, which is characterised by life-threatening secretory diarrhoea, severe metabolic acidosis, and hyponatremia secondary to extremely high faecal losses of sodium, with low or normal excretion of urinary sodium. About half of the patients have a syndromic form, with choanal or anal atresia, hypertelorism, corneal erosions, double kidney, cleft palate, and digital anomalies.

Molecular pathology
Caused by defects of SPINT2, which encodes a transmembrane protein that inhibits serine proteases.