Respiratory & Pulmonary System

Cystic Fibrosis(CF)

Cystic fibrosis is a hereditary disease that mainly affects the lungs and digestive system, causing progressive disability and for some, early death. Formerly known as cystic fibrosis of the pancreas, this entity has increasingly been labeled simply "cystic fibrosis." Average life expectancy is around 37 years, although improvements in treatments mean a baby born today could expect to live longer.

CF is caused by a mutation in a gene called the cystic fibrosis transmembrane conductance regulator (CFTR). The product of this gene is a chloride ion channel important in creating sweat, digestive juices and mucus. Although most people without CF have two working copies of the CFTR gene, only one is needed to prevent cystic fibrosis. CF develops when neither gene works normally. Therefore, CF is considered an autosomal recessive disease. The name “cystic fibrosis” refers to the characteristic “fibrosis” (tissue scarring) and cyst formation within the pancreas, first recognized in the 1930s.

Difficulty breathing and insufficient enzyme production in the pancreas are the most common symptoms. Thick mucus production as well as a less competent immune system results in frequent lung infections, which are treated, though not always cured, by oral and intravenous antibiotics and other medications. A multitude of other symptoms, including sinus infections, poor growth, diarrhea and potential infertility (mostly in males, due to the condition Congenital bilateral absence of the vas deferens) result from the effects of CF on other parts of the body. Often, symptoms of CF appear in infancy and childhood; these include meconium ileus, too many people fail to thrive and recurrent lung infections.

Cystic fibrosis is one of the most common life-shortening, childhood-onset inherited diseases. In the U.S., 1 in 3900 children is born with CF. It is most common among Europeans and Ashkenazi Jews; one in twenty-two people of European descent carry one gene for CF, making it the most common genetic disease among such people. About 30,000 people in the United States have the disease.

Emphysema

Emphysema is a chronic lung disease most often caused by prolonged exposure to toxic chemicals and/or tobacco smoke. It is characterized by the loss of elasticity of the lung tissue, destruction of structures supporting the alveoli (the air sacs at the end of the airways) and destruction of blood capillaries feeding the alveoli. As a result, the small airways collapse during expiration and air gets trapped in the lungs. Symptoms include shortness of breath on exertion, hyperventilation (to get more oxygen into the lungs) and an expanded chest.

Lung Damage

Patients are often placed on high concentrations of oxygen in order to maintain proper levels of the gas in their blood. Long-term exposure to high concentrations of oxygen is toxic and can lead to decreased lung function, respiratory failure and even death. Oxidant exposure is just one of the causes of a spectrum of lung injuries that are known collectively as ARDS; other injuries that can cause this condition include trauma, infection, drug overdose, metabolic disorders and inhaled toxicants.

Nasal Congestion

Nasal congestion is a congested nose and sinuses or obstruction of the nose.

Pulmonary Embolism

Pulmonary embolism is the blockage of a pulmonary artery in the lungs by a blood clot (thrombus), fat, air or tumor cells. The most common form is a blood clot which originated as a deep vein thrombus and traveled through the veins and right heart into the lungs. Most patients are diagnosed through pulmonary angiopathy and CT scans. Symptoms include difficulty breathing, pain during breathing and circulatory instability. The National Institutes of Health estimated at least 100,000 cases of PE occur each year in the United States.