Chloride diarrhea in a child 8 months old

Chloride diarrhea is a rare genetically determined disease caused by mutations of the SLC26A3 gene and characterized by the appearance of persistent watery diarrhea from the first days of the child’s life. The disease is accompanied by the development of hypokalemic hypochloraemic alkalosis. Features of the clinical aspects and metabolic disorders in congenital chloride diarrhea determine the need for differential diagnosis with a wide range of pathological conditions, which often leads to late diagnosis and increases the risk of complications. The article presents the clinical analysis of a patient with congenital chloride diarrhea, the criteria for diagnosing the disease, the possible errors in the diagnostic search process, describes the tactics of the child’s management.

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