Familial pseudohyperkalaemia Chiswick: a novel congenital thermotropic variant of K and Na transport across the human re cell membrane

摘要

Two families with inherited abnormalities in Naand K transport across the red cell membrane are described.Both presented with `pseudohyperkalaemia' as a result ofloss of K from the red cells on storage at room temperature.Routine haematology was essentially normal, except formacrocytosis in one family. Studies of the temperaturedependence of the passive leak to K showed a novel shoulderpattern with a minimum at 258C, a maximum at 108C,followed by a further fall. As in other cases of red cell-basedpseudohyperkalaemia, the abnormal temperature dependenceof this `leak' flux could be held to account for the loss of K fromthe cells at room temperature. These cases represent a novelvariant of the temperature dependence of the passive leak of Kand Na across the red cell membrane, and can be classifiedas a mild, non-haemolytic form of the group known