Familial pseudohyperkalemia

Definition:

Familial pseudohyperkalaemia (PSHK) is an autosomal dominant red cell trait characterized by increased serum potassium in whole blood stored at or below room temperature, as a result of a temperature-based abnormality in the transport of potassium across the red cell membrane. PSHK is not accompanied by clinical symptoms or biological signs except for borderline abnormalities of red cell shape.

References:

[1]. Daniel M Gore, et al. Familial pseudohyperkalaemia Cardiff: a mild version of cryohydrocytosis. Br J Haematol. 2002 Apr;117(1):212-4. [Content Brief]

[2]. Immacolata Andolfo, et al. Missense mutations in the ABCB6 transporter cause dominant familial pseudohyperkalemia. Am J Hematol. 2013 Jan;88(1):66-72. [Content Brief]

[3]. Immacolata Andolfo, et al. Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1. Blood. 2013 May 9;121(19):3925-35, S1-12. [Content Brief]

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