Familial pseudohyperkalaemia (Q39535): Difference between revisions
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| description / pt-br | description / pt-br | ||
Doença causada por uma mutação geneticamente herdada. Essa doença é caracterizada por um defeito temperatura-dependente na permeabilidade da membrana dos glóbulos vermelhos ao potássio, que leva a níveis in vitro elevados de potássio em amostras armazenadas a menos de 37°C, resultando em níveis de potássio elevados no sangue que não refletem os níveis reais de potássio. A confirmação é feita pela identificação da mutação genética por testagem genética. | |||
| description / en | description / en | ||
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. | |||
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.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | 3A10.3 |
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| 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. |
