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Gastroenterologists caring for adults with diarrhea rarely see familial diarrheal syndromes except in cases of acute infections that are spread among family members. Rare forms of diarrhea inherited in autosomal recessive fashion may present in infancy. Now, researchers describe a novel familial diarrhea syndrome inherited in dominant fashion in a family in Norway.
The proband was 88 years old and admitted for dehydration. The 32 affected family members (age range, 2–89 years) averaged 3.6 stools per day that were typically watery or loose and accompanied by severe flatulence and in some cases abdominal pain. Ten family members had undergone laparotomy for bowel obstruction, and several had dilated bowel without apparent obstruction. Crohn d…