Chilean consensus for the integral care of children and adults with cystic fibrosisCystic Fibrosis (CF) is the most frequent hereditary disease in whites, with a reserved prognosis. Since 2003, Chile began a comprehensive National Cystic Fibrosis Program, directed by the Respiratory Health Unit of the Ministry of Health. To date, the main results of the Program record a significantly longer survival (average 27 years) and a significant reduction in the age of diagnosis of patients admitted from 2006 onwards. Access to Chilean Explicit Health Guarantees, the implementation of neonatal screening in some regions of the country, the organization and setting up of CF-trained teams of various specialties, has contributed to improving results. Although the main manifestations are of the respiratory and digestive system, the multisystemic nature of CF makes it necessary to know the different aspects involved in its management, in order to optimize the results of the treatment and the resources invested, both in the public and private sectors. This document is a review and an update on the main aspects of the diagnosis, monitoring and treatment of the respiratory and non-respiratory manifestations of CF.
A phenotype describes a group of patients who present with similar clinically observable characteristics. An endotype is a subgroup of patients who share the same pathophysiologic processes that lead to disease presentation. Asthma is a complex chronic disorder that consists of many identifiable phenotypes and two generally accepted endotypes. Understanding the characteristics of the underlying inflammation requires lung biopsies or bronchoalveolar lavage studies, which are invasive and potentially dangerous. There are ongoing investigations that study biomarkers to define asthma phenotypes and endotypes. This article reviews the potential utility of pharmacogenomics, exhaled breath condensates, and serum biomarkers in defining asthma phenotypes and endotypes. Key words: asthma, pathogenesis, pharmacogenetics, exhaled condensates, biomarkers
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