Синдром постуральної ортостатичної тахікардії, зумовлений дефіцитом NET
ORPHA:443236· ICD-10 I95.1· Postural orthostatic tachycardia syndrome due to NET deficiency
Визначення(English summary)
A rare, genetic, primary orthostatic disorder characterized by dizziness, palpitations, fatigue, blurred vision and tachycardia following postural change from a supine to an upright position, in the absence of hypotension. A syncope with transient cognitive impairment and dyspnea may also occur. The norepinephrine transporter deficiency leads to abnormal uptake and high plasma concentrations of norepinephrine.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal dominant
- Вік початку
- Adult