Сімейна псевдогіперкаліємія
ORPHA:90044· ICD-10 D58.8· Familial pseudohyperkalemia
Визначення(English summary)
Familial pseudohyperkalemia (FP) is an inherited, mild, non-hemolytic subtype of hereditary stomatocytosis that is associated with a temperature-dependent anomaly in red cell membrane permeability to potassium that leads to high in vitro potassium levels in samples stored below 37°C. FP is not associated with additional hematological abnormalities, although affected individuals may show some mild abnormalities like macrocytosis.
- Поширеність
- Unknown
- Успадкування
- Autosomal dominant
- Вік початку
- All ages