Sumario: | This book offers a comprehensive overview of alpha-1 antitrypsin deficiency, an inherited condition that leads to lung disease in adults and liver disease in adults and children. While it is a rare condition, the mechanisms underlying its clinical manifestations have been largely clarified. Specific treatment, however, is available only for the lung disease that arises from the condition, thus necessitating continued research into new and alternative therapeutic solutions. The book discusses the biology of alpha-1 antitrypsin, protein misfolding and polymerization, and diagnosis and treatment of alpha-1 antitrypsin deficiency and its associated diseases. It concludes with a discussion of alpha-1 antitrypsin therapy in diseases not associated with alpha-1 antitrypsin deficiency, and the role of healthcare organizations in the rare disease space. Written for pulmonary clinicians and scientists, Alpha-1 Antitrypsin: Role in Health and Disease is a valuable resource that sheds light on this rare disease. .
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