Colonic electrolyte transport in health and in congenital chloride diarrhea.

Congenital Chloride-Losing Diarrhea in Saudi Children

“…These abnormalities are hyponatremia, hypokalemia, metabolic alkalosis, and high chloride concentration in the stool, 5 and all were present in our four patients. Patients with CCD may have semi-formed stool along with low chloride concentration if they are dehydrated for a long time, 16 but this was not seen in any of our patients. Some patients with CCD will die from dehydration and electrolyte imbalance in the early weeks of life if they are not treated adequately, as happened with a sibling of Patients 2 and 3 who died at 1 week of age.…”

News from the End of the Gut-How the Highly Segmental Pattern of Colonic HCO3- Transport Relates to Absorptive Function and Mucosal Integrity

“…150) Without proper treatment, which is lifelong oral replacement of electrolytes and water, most patients die within the first few weeks of life from hypokalemia and dehydration. A perfusion study in humans with 36 Cl as a substrate could demonstrate a defect in a Cl Ϫ /HCO 3 Ϫ exchange mechanism.…”

“…A perfusion study in humans with 36 Cl as a substrate could demonstrate a defect in a Cl Ϫ /HCO 3 Ϫ exchange mechanism. 150) In the meantime, mutated SLC26A3 (DRA) was identified as the molecular correlate of CLD (2.1).…”

Positional candidate genes for congenital chloride diarrhea suggested by high-resolution physical mapping in chromosome region 7q31.

“…214700;McKusick 1994] is an autosomal recessive disorder of intestinal electrolyte transportation, manifested as a lifetime profuse watery diarrhea with a high chloride content (Norio et al 1971). The pathogenesis of the disease is unknown, but the defect appears to impair chloride and bicarbonate trafficking in the distal ileum and colon (Turnberg 1971;Holmberg et al 1975). The diarrhea begins before birth, causing polyhydramnios and often premature birth.…”