Pulmonary cystic diseases constitute a heterogeneous group of diseases with a difficult diagnosis, radiologically characterized by the presence of air spaces surrounded by a thin wall in the lung parenchyma. These alterations cause loss of functional capacity, respiratory failure, and, frequently, pneumothorax. Some of these entities have a cause with a genetic basis. Among these are lymphangioleiomyomatosis associated with tuberous sclerosis (LAM), Birt-Hogg-Dubé syndrome, neurofibromatosis type 1, Ehlers-Danlos type IV syndrome, and cutis laxa.
In this group of pathologies the study of alpha-1 antitrypsin deficiency is included because, though radiological affectation appears in the form of emphysema and not in the form of cysts, conditions may arise in which the differential diagnosis with other described entities may be considered
Through ClientSite you can filter variants and download your reports