Telomerase and Idiopathic Pulmonary Fibrosis

摘要: Idiopathic pulmonary fibrosis (IPF) is the most common manifestation of telomere-mediated disorders. Germline mutations in essential telomerase genes, hTERT and hTR, are causal genetic defect up to one-sixth families. The presence this subset significant for clinical decisions as affected individuals can develop extra-pulmonary complications related telomere shortening such bone marrow failure cryptogenic liver cirrhosis. There also evidence that IPF an ancestral autosomal dominant syndromes where, with successive generations, disease evolves from into a failure-predominant disorder, defining unique form anticipation. Here I review significance defects understanding genetics, patterns pathophysiology IPF. importance diagnosis patient care will be discussed.