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Primary ciliary dyskinesia (PCD) is a rare, autosomal recessive genetic ciliopathy, that causes defects in the action of cilia lining the upper and lower respiratory tract, sinuses, Eustachian tube, middle ear, fallopian tube, and flagella of sperm cells.
ACO presents with symptoms of both asthma and COPD. [1] ACO presents in adulthood, usually after the age of 40 (after there has been significant tobacco smoke or other toxic fumes exposure), with symptoms of dyspnea (shortness of breath), exercise intolerance, sputum production, cough and episodes of symptomatic worsening known as exacerbations.
A ciliopathy is any genetic disorder that affects the cellular cilia or the cilia anchoring structures, the basal bodies, [1] or ciliary function. [2] Primary cilia are important in guiding the process of development, so abnormal ciliary function while an embryo is developing can lead to a set of malformations that can occur regardless of the particular genetic problem. [3]
Asthma is caused by multiple genes, some having protective effect, with each gene having its own tendency to be influenced by the environment although a genetic link leading to acute severe asthma is still unknown. [3] Symptoms include chest tightness, rapidly progressive dyspnea (shortness of breath), dry cough, use of accessory respiratory ...
[9] [10] Symptoms include episodes of wheezing, coughing, chest tightness, and shortness of breath. [3] These may occur a few times a day or a few times per week. [4] Depending on the person, asthma symptoms may become worse at night or with exercise. [4] Asthma is thought to be caused by a combination of genetic and environmental factors. [3]
Bronchial hyperresponsiveness is a hallmark of asthma but also occurs frequently in people with chronic obstructive pulmonary disease (COPD). [2] In the Lung Health Study, bronchial hyperresponsiveness was present in approximately two-thirds of patients with non-severe COPD, and this predicted lung function decline independently of other ...
In the UK, approximately 1 in 7 individuals are affected by some form of chronic lung disease, most commonly chronic obstructive pulmonary disease, which includes asthma, chronic bronchitis and emphysema. [32] Respiratory diseases (including lung cancer) are responsible for over 10% of hospitalizations and over 16% of deaths in Canada. [33]
Obstructive conditions of the lower airway, including severe asthma or COPD episodes, can also lead to respiratory arrest. During these episodes, known as exacerbations, airway resistance is increased due to inflammatory changes in the lungs. This leads to increased work of breathing and decreased oxygen delivery to tissue.