Abstract: Objective　To explore the clinical characteristics and genetic variation of congenital chloride diarrhea (CCD). Method　The clinical data and genetic analysis of CCD in a child were retrospectively analyzed. Results　A 15-dayold girl was admitted to the hospital due to yellow sclera and skin after birth. After admission, the patient had occasional diarrhea and recurrent abdominal distension. Repeated blood gas and electrolyte analysis suggested hypokalemia, hyponatremia, hypochloremia and metabolic alkalosis. Thus, Bartter syndrome was diagnosed clinically and after treated with sodium chloride and potassium chloride, the results of blood gas and electrolyte analysis were basically stable. The genetic test found that the child’s SLC26A3 gene had a compound heterozygous variation, c.269_270 dupAA and c.735+4_735+7del that were from her mother and father respectively. The c.735+4_735+7del is a new mutation and has not been reported in the literature. Conclusion A rare case of CCD was diagnosed.

Key words: congenital chloride diarrhea;　SLC26A3 gene;　Bartter syndrome