Table 2 Summary of storage lung diseases
From: Metabolic and storage lung diseases: spectrum of imaging appearances
Disease | Aetiology | Pathology | Relevant clinical features | Imaging findings | |
|---|---|---|---|---|---|
CXR | CT | ||||
Niemann-Pick disease | Autosomal recessive lysosomal storage disorder | Deposition of lipid laden macrophages, NP cells in various organs; endogenous lipoid pneumonia in the lungs | Often asymptomatic, Ashkenazi Jews | Reticulonodular markings | Ground-glass opacity in the upper lungs and interlobular septal thickening in the lower lungs |
Gaucher disease | Autosomal recessive lysosomal storage disorder with deficiency of glucocerebrosidase | Deposition of lipid laden macrophages, Gaucher cells in various organs | Often asymptomatic, Ashkenazi Jews | Diffuse reticular markings | Interlobular septal thickening and DIP-like reaction. May see arteriovenous shunting with hepatopulmonary syndrome |
Hermansky-Pudlak syndrome | Autosomal recessive disorder with defective trafficking of intracellular vesicles | Triad of oculocutaneous albinism, platelet dysfunction and pulmonary fibrosis | Dyspnea, seen in Puerto-Rican population | Reticular markings | Pulmonary fibrosis with UIP imaging pattern |