hereditary diarrhea type 3
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Epidemiology
- rare
Pathology
- hyponatremia secondary to extraordinarily high fecal losses of Na+
- absence of infectious, autoimmune, & endocrine causes
Genetics
- associated with defects in SPINT2
Clinical manifestations
- inherited diarrhea of infancy
- life-threatening secretory diarrhea
Laboratory
- arterial blood gas
- severe metabolic acidosis
- serum sodium: hyponatremia
- urine sodium: low or normal excretion of urinary Na+