3A10.3
Familial pseudohyperkalaemia
Pseudo-hipercalemia familiar
CategoryDefinition
A disease caused by a genetically inherited mutation. This disease is characterised by a temperature-dependent defect in red cell membrane permeability to potassium that leads to high in vitro potassium levels in samples stored below 37°C leading to elevated potassium levels in the blood that does not reflect the true potassium level. Confirmation is by identification of genetic mutation through genetic testing.
Index Terms
Familial pseudohyperkalaemiaHereditary pseudohyperkalaemiaFamilial pseudohyperkalaemia type 1Familial pseudohyperkalaemia type 2Familial pseudohyperkalaemia, Cardiff type