Congenital Na+ diarrhea: a new type of secretory diarrhea.
We report a new type of congenital "secretory diarrhea" in a 9-year-old girl that led to contraction and severe metabolic acidosis in the first weeks of life. Her fecal Na+ concentration was high and the pH alkaline. All known causes of secretory diarrhea were excluded. Our findings indicate a defect in the handling of Na+ and H+ in the distal ileum and colon. Treatment with orally administered Na-K-citrate supplementation has normalized her fluid and electrolyte status and allowed normal growth and psychomotor development, but the diarrhea has persisted.
D000138:Acidosis / Q000209:etiology; D000293:Adolescent; D000450:Aldosterone / Q000378:metabolism; D002951:Citrates / Q000627:therapeutic use; D019343:Citric Acid; D003967:Diarrhea / Q000150:complications / Q000151:congenital* / Q000378:metabolism; D004573:Electrolytes / Q000378:metabolism; D005243:Feces / Q000378:metabolism; D005260:Female; D005768:Gastrointestinal Hormones / Q000378:metabolism; D006801:Humans; D006859:Hydrogen / Q000378:metabolism; D007408:Intestinal Absorption; D007413:Intestinal Mucosa / Q000378:metabolism; D007677:Kidney Function Tests; D012083:Renin / Q000097:blood; D012964:Sodium / Q000378:metabolism*
D002951:Citrates; D004573:Electrolytes; D005768:Gastrointestinal Hormones; D019343:Citric Acid; D000450:Aldosterone; D006859:Hydrogen; D012964:Sodium; D012083:Renin