Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:3.4.15.1 (ACE)
 18,300 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 45-year-old lady presented acutely with pleuritic chest pain, haemoptysis, and dyspnoea. Her background was significant for a 1.4 cm renal angiomyolipoma, and she was an ex-smoker without any relevant family history. A computed tomography (CT) pulmonary angiogram was negative for a pulmonary embolism but demonstrated diffuse cystic change throughout both lungs. A bronchoscopy confirmed a normal endobronchial tree, and pulmonary function tests demonstrated moderate airways obstruction, with reversibility and a normal diffusion capacity for carbon monoxide (DLCO). A video-assisted thoracoscopic surgery (VATS) lung biopsy showed non-caseating granulomas, and serum angiotensin converting enzyme (ACE) was elevated consistent with a diagnosis of pulmonary sarcoidosis. Further sectioning indicated focal areas that stained positive for Human Melanoma Black 45 (HMB-45), confirming lymphangioleiomyomatosis (LAM). A diagnosis of cystic lung disease secondary to coexistent sarcoidosis and LAM was made.
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PMID:Coexistent sarcoidosis and lymphangioleiomyomatosis in a patient with cystic lung disease. 3051 68