Тяжкий ранній легеневий альвеолярний протеїноз, зумовлений дефіцитомMARS
ORPHA:440427· ICD-10 J84.0· Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
Визначення(English summary)
A rare, genetic interstitial lung disease characterized by accumulation of lipoproteins in the pulmonary alveoli leading to restrictive lung disease and respiratory failure. Patients present with dyspnea, tachypnea, cough, failure to thrive, and digital clubbing. Liver disease have been described in some cases including hepatomegaly, steatosis, fibrosis or cirrhosis.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal recessive
- Вік початку
- Childhood, Infancy