Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0002986 (Fabry)
 5,646 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Lysosomal storage diseases (LSD) include a wide range of different disorders with variable degrees of respiratory system involvement. The purpose of this narrative review is to treat the different types of respiratory manifestations in LSD, with particular attention being paid to the main molecular pathways known so far to be involved in the pathogenesis of the disease. A literature search was conducted using the Medline/PubMed and EMBASE databases to identify studies, from 1968 through to November 2018, that investigated the respiratory manifestations and molecular pathways affected in LSD. Pulmonary involvement includes interstitial lung disease in Gaucher's disease and Niemann-Pick disease, obstructive airway disease in Fabry disease and ventilatory disorders with chronic respiratory failure in Pompe disease due to diaphragmatic and abdominal wall muscle weakness. In mucopolysaccharidosis and mucolipidoses, respiratory symptoms usually manifest early in life and are secondary to anatomical malformations, particularly of the trachea and chest wall, and to accumulation of glycosaminoglycans in the upper and lower airways, causing, for example, obstructive sleep apnea syndrome. Although the molecular pathways involved vary, ranging from lipid to glycogen and glycosaminoglycans accumulation, some clinical manifestations and therapeutic approaches are common among diseases, suggesting that lysosomal storage and subsequent cellular toxicity are the common endpoints.
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PMID:Molecular Pathways and Respiratory Involvement in Lysosomal Storage Diseases. 3065 May 29

Certain entities may simultaneously involve the lungs and the myocardium. Knowing their cardiac and thoracic manifestations enhances the understanding of those conditions and increases awareness and suspicion for possible concurrent cardiothoracic involvement. Entities that can present with pulmonary and myocardial involvement include infiltrative diseases like sarcoidosis and amyloidosis, eosinophil-associated conditions including eosinophilic granulomatosis with polyangiitis (EGPA) and hypereosinophilic syndrome (HES), connective tissue diseases such as systemic sclerosis (SSc) and lupus erythematosus and genetic disorders like Fabry disease (FD). Lung involvement in sarcoidosis is almost universal. While cardiac involvement is less common, concurrent cardiothoracic involvement can often be seen. Pulmonary amyloidosis is more often a localized process and generally occurs separately from cardiac involvement, except for diffuse alveolar-septal amyloidosis. EGPA and HES can present with consolidative or ground glass opacities, cardiac inflammation and endomyocardial fibrosis. Manifestations of SSc include interstitial lung disease, pulmonary hypertension and cardiomyopathy. Lupus can present with serositis, pneumonitis and cardiac inflammation. FD causes left ventricular thickening and fibrosis, and small airways disease. This article aims to review the clinicopathological features of chest and cardiac involvement of these entities and describe their main findings on chest CT and cardiac MR.
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PMID:Pathological entities that may affect the lungs and the myocardium. Evaluation with chest CT and cardiac MR. 3315 69