Abstract：
:Familial pseudohyperkalemia is a "leaky red blood cell" condition in which the cells show a temperature-dependent loss of potassium (K) from red blood cells when stored at room temperature, manifesting as apparent hyperkalemia. The red blood cells show a reduced lifespan in vivo but there is no frank hemolysis. Studies of cation content and transport show a marginal increase in permeability at 37 degrees C and a degree of cellular dehydration, qualitatively similar to the changes seen in dehydrated hereditary stomatocytosis (hereditary xerocytosis). Physiological studies have shown that the passive leak to K has an abnormal temperature dependence, such that the leak is less sensitive to temperature than that in normal cells. We performed genetic mapping on the original family and found that the condition in this kindred maps to the same locus (16q23-ter) that we have previously identified for an Irish family with dehydrated hereditary stomatocytosis, which does not show the same temperature effects.
journal_name
Bloodjournal_title
Bloodauthors
Iolascon A,Stewart GW,Ajetunmobi JF,Perrotta S,Delaunay J,Carella M,Zelante L,Gasparini Psubject
Has Abstractpub_date
1999-05-01 00:00:00pages
3120-3issue
9eissn
0006-4971issn
1528-0020journal_volume
93pub_type
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