domingo, 10 de agosto de 2014

COPD - Conditions - GTR - NCBI

COPD - Conditions - GTR - NCBI

Genomics & Health Impact Update

Chronic Obstructive Pulmonary Disease: Genetics & Public Health

x ray of a lung
CDC information: COPD is a group of diseases that cause airflow blockage. It includes emphysema, chronic bronchitis, and in some cases asthma. Risk factors include tobacco, pollution and genetic factors
Find out about COPD GeneticsExternal Web Site Icon from the COPDGene Genetic Epidemiology Study
Did you know? There are >600 genes reported in relation to COPD risk and outcomes including 27 genomewide association studies. To find out more visit the HuGE NavigatorExternal Web Site Icon
Check out genetic conditions and tests associated with COPDExternal Web Site Icon from the NIH Genetic Testing Registry 

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Alpha-1 antitrypsin deficiency (AATD) is characterized by an increased risk for: chronic obstructive pulmonary disease (i.e., emphysema, persistent airflow obstruction, and/or chronic bronchitis) in adults; liver disease in children and adults; panniculitis ; and c-ANCA positive vasculitis. Emphysema, sometimes with associated bronchiectasis, is the most common manifestation of AATD. Smoking is the major factor influencing the course of chronic obstructive pulmonary disease (COPD). The onset of respiratory disease in smokers with AATD is characteristically between ages 40 and 50 years; in non-smokers, the onset can be delayed to the sixth decade, and some non-smokers never develop COPD. Non-smokers may have a normal life span. Although reported, emphysema in children with AATD is extremely rare. AATD-associated liver disease, which is present in only a small portion of affected children, manifests as obstructive jaundice and increased serum aminotransferase levels in the early days and months of life. The incidence of liver disease increases with age. Liver disease in adults (manifesting as cirrhosis and fibrosis) may occur in the absence of a history of neonatal or childhood liver disease. The risk for hepatocellular carcinoma (HCC) is increased in individuals with AATD. [from GeneReviews]
Chronic obstructive pulmonary disease (COPD) is a common, complex disorder associated with substantial morbidity and mortality. COPD is defined by irreversible airflow obstruction due to chronic bronchitis, emphysema, and/or small airways disease. Airflow obstruction is typically determined by reductions in quantitative spirometric indices, including forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (FVC) (Silverman et al., 2002; Celedon et al., 2004). [from OMIM]

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