Inheritance of Bartter syndrome.
The Bartter syndrome is regarded as an autosomal recessive trait because of sib occurrence, equal sex ratio, and normal parents. Recently, obligatory carriers were shown to have the same pattern of platelet aggregation inhibition as their affected children, possibly a reflection of altered prostaglandin action. We investigated eight patients, and their parents and sibs, and found that all persons included in the study had impaired thrombocyte aggregation. These aggregation studies support the hypothesis that the Bartter syndrome is an autosomal recessive trait.
D000244:Adenosine Diphosphate / Q000494:pharmacology; D001477:Bartter Syndrome / Q000097:blood / Q000235:genetics*; D004039:Diet, Sodium-Restricted; D004837:Epinephrine / Q000494:pharmacology; D005260:Female; D005808:Genes, Recessive; D006580:Genetic Carrier Screening; D006801:Humans; D006929:Hyperaldosteronism / Q000235:genetics*; D066298:In Vitro Techniques; D008297:Male; D010974:Platelet Aggregation / Q000187:drug effects
D000244:Adenosine Diphosphate; D004837:Epinephrine