Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0034067 (emphysema)
 11,506 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Alpha-1-antitripsyn neutralizes the tissue damaging effects of proteases. Alpha-1-antitripsyn deficiency manifests with necrotizing vasculitis. Wegener's granulomatosis is a systemic necrotizing vasculitis that uncommonly affects the gut. The molecular genetics of patients with Wegener's granulomatosis of the gastrointestinal tract have never been characterized. A 63-year-old man with emphysema was admitted with a fever of unknown origin. Initially, this fever was linked to ileocolic Crohn's disease and later attributed to antineutrophil cytoplasm antibody-positive systemic vasculitis. Genetic analysis revealed that the alpha-1-antitripsyn deficiency was due to a previously unreported compound heterozygosity for two mutations (PiZ and PiMProcida). Our findings appear to support the concept that severe alpha-1-antitripsyn deficiency is implicated in the pathogenesis of the Crohn's disease-like milder intestinal manifestations belonging to the spectrum of Wegener's granulomatosis.
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PMID:Intestinal Wegener's granulomatosis in a patient with severe alpha-1-antitrypsin deficiency resulting from a unique combination of two deficiency alleles (PiZ and PiMProcida). 1246 63

A 79-year-old man presented with fever of unknown origin with interstitial shadows in the bilateral lung fields. A bronchoscopic examination did not indicate any malignancy or specific interstitial disease. After the bronchoscopic examination, the patient gradually developed subcutaneous and mediastinal emphysema. As the subcutaneous emphysema and mediastinal emphysema were mild, the patient was not administered any specific treatment. However, he eventually developed severe subcutaneous emphysema and mediastinal emphysema, and did not show any transient improvement. The patient underwent another bronchoscopic examination at another centre and a lacerated wound was detected. Thereafter, emergent operation was performed.
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PMID:latrogenic Mediastinal Emphysema and Subcutaneous Emphysema Induced by Bronchoscopic Examination. 3015 53