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.

单词	diarrhoea type 3, secretory sodium, congenital
释义	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.
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