Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0018133 (graft-versus-host disease)
 18,032 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 60-year old woman presented with dyspnoea and fatigue. She was frail and cachectic (BMI 17.5) with a pancytopenia. Previously she had received chemotherapy for chronic lymphatic leukaemia. She relapsed one year ago necessitating a reduced intensity conditioning allogeneic haematopoietic cell transplantation. Subsequently, graft versus host disease required high-dose immunosuppressants. Computerized tomography on admission showed bilateral lung nodules and a suspicious cardiac mass. Bronchial biopsies demonstrated abundant hypae consistent with Aspergillus fumigatus infection. Echocardiography demonstrated a large fungus ball attached to the right coronary cusp of the aortic valve with near complete obliteration of the left ventricular outflow tract. Due to the high risk of embolization this was resected under cardiopulmonary bypass. The mass was attached subvalvularly to the ventricular septal free wall and eroding through it. It peeled off leaving intact aortic leaflets. Unresectable fungal deposits were discovered on the interventricular septum, the left ventricle free wall and posterior aortic wall. High-dose systemic antifungal therapy (Voriconazole and Amphoteracin B) was given for 4 months. After discharge she remained well till a 4-month follow-up, after which she eventually succumbed to her disease. We discuss the clinical difficulties in managing patients with fungal infective endocarditis and present a brief review of cardiac aspergillosis management.
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PMID:Aspergillus endocarditis: a case of near complete left ventricular outflow obstruction. 2237 93

We describe an immunosuppressed, 48-year-old male, allogeneic hematopoietic stem cell transplant recipient with severe graft-versus-host disease who developed invasive pulmonary Aspergillus fumigatus infection 6 months after transplant. His lack of response to voriconazole and undetectable serum trough levels of the drug led us to establish that he had the uncommon cytochrome P450, CYP2C19*17 allele, which leads to a rapid metabolism of voriconazole but not of the other azole antifungals. We discuss the particular challenges encountered in this case.
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PMID:CYP2C19*17 genetic polymorphism--an uncommon cause of voriconazole treatment failure. 2598 28