Seminars in respiratory and critical care medicine
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Bronchiectasis is an abnormal dilation of bronchi, consequent to the destruction of their walls. It is included in the category of obstructive pulmonary diseases, along with chronic obstructive pulmonary disease (COPD), asthma, and cystic fibrosis. In approximately 50% of cases, bronchiectasis is associated with underlying conditions; in the remainder, known causes are not ascertainable (idiopathic bronchiectasis). ⋯ The cystic fibrosis gene is also associated with bronchiectasis due to rheumatoid arthritis and allergic bronchopulmonary aspergillosis. A few other genes have been investigated in idiopathic bronchiectasis, with negative results. Idiopathic bronchiectasis is, therefore, to be considered as an obstructive multifactorial disorder belonging to the category of cystic fibrosis monosymptomatic diseases (or CFTR-opathies), whose pathogenesis is influenced by environmental factors and other undetermined genes.
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Semin Respir Crit Care Med · Apr 2003
Genetics of acute respiratory distress syndrome: challenges, approaches, surfactant proteins as candidate genes.
There are challenges "inherent" in studying the genetics of a complex disease, such as acute respiratory distress syndrome (ARDS). It is necessary to define each ARDS subgroup using considerably narrower definitions that better reflect the particular subgroup. ⋯ This article presents the findings of a small pilot case-control association study where the surfactant proteins were used as candidate genes in the study of ARDS. This article discusses the relevance of surfactant protein genes in ARDS as well as the significance of genetic variants associated with ARDS subgroups.