Congenital chloridorrhoea or so-called congenital alkalosis with diarrhoea

Colonic electrolyte transport in health and in congenital chloride diarrhea.

“…In eight perfusions of the controls, the mean flow rate was 0.9 (range 0.2-1.9) ml/min and the mean concentrations of Nat 108. 3 (18,19 HCO3-exchange in CCD (7,12,14) is the cause of the increased effluent volume.…”

Pathogenesis of congenital alkalosis with diarrhea

“…They termed this syndrome congenital alkalosis with diarrhea. Subsequently, four additional cases have been reported (3)(4)(5)(6), sometimes under the name of congenital chloridorrhea. In contrast to all other diarrheal states the stool chloride concentration is consistently greater than the sum of the sodium and potassium concentrations.…”

“…They attributed the alkalosis to potassium and chloride deficiencies incurred by fecal losses of these ions. The low bicarbonate concentration in stool suggested to these workers a defect in the intestinal exchange mechanism which absorbs chloride and secretes bicarbonate (6). Turnberg recently studied Evanson and Stanbury's patient using an intestinal perfusion technique and noted chloride secretion against a concentration gradient in the ileum (7).…”

Proton-Pump Inhibition of Gastric Chloride Secretion in Congenital Chloridorrhea

“…The disorder therefore became known as congenital chloridorrhea 3 or congenital chloride diarrhea. 4 Inherited as an autosomal recessive trait, [5][6][7] the disease causes intrauterine and lifelong diarrhea.…”