Cystic Fibrosis
Cystic fibrosis (CF) is one of the most common genetic diseases and one of the best known to the general public. There are approximately one thousand new cases of CF in the United States every year, and approximately thirty thousand people in the country are currently affected. In many ways, it has come to be viewed, along with sickle-cell disease, as a prototypical recessive genetic disorder, one that can teach us a great deal about the molecular basis of disease, population genetics, and delivery of genetic screening services.
Clinical Features
CF is a multisystem disease, affecting a number of different organs and tissues throughout the body. Most of these manifestations have in common the production of abnormally viscous secretions from glands and surface epithelial cells. In the lung the mucus secretions from the bronchial epithelial cells are unusually thick. They are difficult to clear properly from theairway passages and, instead, tend to collect and obstruct the bronchial tree, while providing a perfect culture medium for dangerous bacteria. Over time, repeated bacterial infections damage and destroy the lung tissue, leading to chronic breathing problems and, eventually, to the loss of viable lung function. Indeed, the pulmonary manifestations of the disease are the main cause of death in most CF patients.
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