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2010•Unpublished venueRequires access

Congenital chloride-losing diarrhea

Zezhong Tang

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Abstract

Congenital chloride-losing diarrhea(CCD) is a rare autosomal recessive disease,characterized by disturbance of intestinal Cl-/HCO3-exchange caused by mutations in the SLC26A3(the solute-linked carrier family 26 member A3) gene.The main clinical feature of CCD is persistent,life-long watery diarrhea started from newborn,which leads to severe electrolyte disturbances with metabolic alkalosis,hypochloremia,hyponatremia,and hypokalemia.Diagnosis can be confirmed on the basis of high fecal chloride concentration( 90 mmol/L).The prognosis is good with an early diagnosis and replacement therapy.

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What this paper is about

Congenital chloride-losing diarrhea(CCD) is a rare autosomal recessive disease,characterized by disturbance of intestinal Cl-/HCO3-exchange caused by mutations in the SLC26A3(the solute-linked carrier family 26 member A3) gene.The main clinical feature of CCD is persistent,life-long watery diarrhea started from newborn,which leads to severe electrolyte disturbances with metabolic alkalosis,hypochloremia,hyponatremia,and hypokalemia.Diagnosis can be confirmed on the basis of high fecal chloride concentration( 90 mmol/L).The prognosis is good with an early diagnosis and replacement therapy.

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Available abstract

Congenital chloride-losing diarrhea(CCD) is a rare autosomal recessive disease,characterized by disturbance of intestinal Cl-/HCO3-exchange caused by mutations in the SLC26A3(the solute-linked carrier family 26 member A3) gene.The main clinical feature of CCD is persistent,life-long watery diarrhea started from newborn,which leads to severe electrolyte disturbances with metabolic alkalosis,hypochloremia,hyponatremia,and hypokalemia.Diagnosis can be confirmed on the basis of high fecal chloride concentration( 90 mmol/L).The prognosis is good with an early diagnosis and replacement therapy.

Key concepts: Hypochloremia, Hypokalemia, Metabolic alkalosis, Hyponatremia, Diarrhea, Alkalosis, Medicine, Internal medicine

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