Familial pseudohyperkalaemia (Q39535): Difference between revisions

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Latest revision as of 04:59, 13 August 2026

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.
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3A10.3
    English
    Familial pseudohyperkalaemia
    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.

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      CID11:3A10.3
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      dki-india-3A10.3
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      Concluído
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      13 August 2026
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