Дефіцит альфа-1-антитрипсину
ORPHA:60· ICD-10 E88.0· Alpha-1-antitrypsin deficiency
Визначення(English summary)
A rare hereditary, metabolic disease characterized by serum levels of alpha-1-antitrypsin (AAT) that are well below the normal range. In the most severe form, the disease can clinically manifest with chronic liver disorders (cirrhosis, fibrosis), respiratory disorders (emphysema, bronchiectasis), and rarely panniculitis or vasculitis.
- Поширеність
- 1-5 / 10 000
- Успадкування
- Autosomal recessive
- Вік початку
- All ages