Familial pseudohyperkalaemia Chiswick: a novel congenital thermotropic variant of K and Na transport across the human red cell membrane.
Two families with inherited abnormalities in Na and K transport across the red cell membrane are described. Both presented with 'pseudohyperkalaemia' as a result of loss of K from the red cells on storage at room temperature. Routine haematology was essentially normal, except for macrocytosis in one family. Studies of the temperature dependence of the passive leak to K showed a novel shoulder pattern with a minimum at 25 degrees C, a maximum at 10 degrees C, followed by a further fall. As in other cases of red cell-based pseudohyperkalaemia, the abnormal temperature dependence of this 'leak' flux could be held to account for the loss of K from the cells at room temperature. These cases represent a novel variant of the temperature dependence of the passive leak of K and Na across the red cell membrane, and can be classified as a mild, non-haemolytic form of the group known as the hereditary stomatocytosis and allied disorders'.
Haines
P G
PG
Department of Medicine, University College London, Rayne Institute, UK.
Crawley
C
C
Chetty
M C
MC
Jarvis
H
H
Coles
S E
SE
Fisher
J
J
Nicolaou
A
A
Stewart
G W
GW
D000745:Anemia, Hemolytic, Congenital / Q000378:metabolism*; D001692:Biological Transport; D004909:Erythrocyte Indices; D004910:Erythrocyte Membrane / Q000378:metabolism*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D011188:Potassium / Q000097:blood*; D012964:Sodium / Q000097:blood*; D013696:Temperature
D012964:Sodium; D011188:Potassium