Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0010200 (cough)
 23,843 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Lymphangioleiomyomatosis (LAM) is a rare cystic lung disease presenting with cough, dyspnea on exertion and recurrent pneumothorax. Substantial achievements have been made during the past two decades regarding the pathogenesis, diagnosis and management of this disorder. LAM, affecting almost exclusively women, is associated with inactivating tuberous sclerosis complex (TSC) gene mutations in LAM cells, resulting in activation of mTOR that controls cell proliferation, growth and motility. Many parallels have been identified between LAM pathogenesis and neoplasia; inactivating mutations, the ability of LAM cells to metastasise, the induction of angiogenesis and lymphangiogenesis, invasion of the lung. Recent reports suggest that VEGF-D levels have diagnostic utility in LAM patients. Partial response of TSC-associated tumors and decrease the rate of lung function decline in females with LAM due to inhibition of mTOR pathway with sirolimus have been demonstrated.
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PMID:[Lymphangioleiomyomatosis - new concepts on pathogenesis, diagnosis and treatment]. 2742 Nov 26