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)

Both Fabry disease and Duchenne muscular dystrophy were confirmed by gene analysis in a Japanese boy. He developed muscle weakness at 4 years of age. A muscle biopsy revealed lamellar inclusion bodies in vascular endothelial cells in addition to myopathic changes with negative dystrophin staining. The myopathic symptoms progressed, and he died of pneumonia at 24 years of age. No clinical manifestations of Fabry disease were observed except for hypohidrosis and angiokeratoma. However, glycolipid accumulation was found in biopsied renal tissue. Molecular analysis demonstrated two gene mutations; a novel single-base deletion in exon 3 of the alpha-galactosidase gene, and a dystrophin gene deletion extending from exon 46 to exon 50. His mother was confirmed to be heterozygous for both gene deletions.
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PMID:Coexistence of gene mutations causing Fabry disease and Duchenne muscular dystrophy in a Japanese boy. 883 34

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