Platelet aggregation in six families with Bartter's syndrome

Abstract

Bartter's syndrome has so far been considered to be an autosomal recessive inherited disease, because of the occurrence of the syndrome in siblings. Both sexes are equally involved. Until now no family has been described in which parents as well as children suffered from the disease. It has recently been found that 'obligatory carriers', i.e. parents of affected children, showed the same pattern of platelet aggregation inhibition as their affected children. We investigated eight patients as well as their parents and siblings, and found that all persons included in the study showed impaired thrombocyte aggregation, especially after low salt intake. We conclude that the restriction of dietary sodium facilitates the measurement of the platelet abnormality.