Congenital chloride diarrhea, an autosomal recessive disease

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Abstract
Congenital chloride diarrhea (CCD) is a persistent, life‐thieatening watery diarrhea with a uniquely high chloride concentration of stool water. It is manifested prenatally hy hydramnios. Evidence was sought to substantiate its genetic transmission as an autosomal recessive trait.Genetic data on 12 families reported from outside Finland and 11 evident and 3 probable families in Finland are discussed. The occurrence was familial in at least 5 sibships. No sex‐specificity was found. The corrected proportion of affected siblings was 0.18 ‐0.29 (extreme possibilities of ascertainment). The parental marriage was consanguineous in 3 evident and 3 probable families, and 17 out of 27 known parents were shown to be consanguineous with 1 ‐8 other CCD parents. The ancestors were unevenly distributed geographically, originating mainly from the eastern parts of Finland. These findings, taken with the peculiar population structure of Finland, constitute distinct evidence for the autosomal recessive mode of transmission of CCD.The name congenital chloride diarrhea is advocated.

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