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Progress and Promise of Cystic Fibrosis
Susan Banks-Schlegel, Ph.D., Gail G. Weinmann, M.D., James Kiley, Ph.D.

Cystic Fibrosis (CF) is a rare inherited disorder of the lungs, digestive system, and sweat glands, but a disorder for which notable scientific findings have led to dramatic improvements in patient health. In the 1950s, most children born with CF died before starting elementary school, but today life expectancy has greatly improved and many patients may expect to have careers, marriage, and families. These improvements illustrate how focused, coordinated research efforts in collaboration with highly motivated families, who volunteer for clinical trials, can make a difference. Through continued research efforts, we are seeking a normal life span for patients with CF.

Most patients with CF die of lung disease. Yet, at birth, babies with CF appear to have normal lungs. A defect in a single gene inherited from both parents results in impaired transport of salt (sodium chloride) in and out of cells. This, in turn, leads to thick, sticky mucus in the lungs and gastrointestinal system. The sticky mucus in the lungs leads to recurrent, destructive infections and in the gastrointestinal system to trouble digesting food. Much of the better survival in CF today is due to better nutrition and management of the respiratory infections.

NHLBI supports a vigorous program of basic and clinical research in CF. Examples include: identification and understanding of how other genes modify the presentation and course of CF lung disease; understanding other consequences of the defective gene and the protein it makes, what makes this protein ineffective, and how the defective protein interacts with other cellular proteins; mechanisms to circumvent the basic chloride transport defect, either by activating other chloride transport mechanisms or by maximizing activity of the defective protein. New animal models of CF (mice and, more recently, pigs and ferrets) will allow investigation of how infection and inflammation arise in the CF lung, including the predilection for certain bacteria, and what can be done to prevent them.

Basic research of the kind described above led to the understanding that rehydration of airways might thin the sticky mucus. Recently, investigators showed in a clinical trial that inhalation of a concentrated salt solution led to better mucus clearance, reduced infections, and improvements in lung function in patients ages 14 and older with CF. If this same treatment proves effective in infants with CF, we might be able to prevent or slow the destructive chronic infections that lead to premature death.

With continued research, clinical trials, and collaboration among CF stake holders, we will continue to make huge strides in CF. We hope individuals with CF will seek care at medical centers that specializes in CF in order to take advantage of the latest treatments as well as to receive advice on participation in the research that has led to the improved survival that we have today.

For more information about CF see: NHLBI http://www.nhlbi.nih.gov/health/health-topics/topics/cf/; Cystic Fibrosis Foundation www.cff.org .

This article was published in the Spring 2008 issue of the ALA Lung Health Magazine.

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