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Cystic Fibrosis



Cystic Fibrosis is one of the most common genetic disorders in the United States.  It affects primarily Caucasians of Northern European descent.  An estimated 30,000 children are affected and 1 out of 31 Americans are symptom-free carriers.


Cystic Fibrosis (CF) is caused by mutations in the CF transmembrane conductance regulator (CFTR) gene on chromosome 7.  It is inherited as an autosomal recessive trait.  CF affects primarily exocrine glands, including respiratory, pancreatic, salivary and sweat glands.  In the respiratory system, CF affects the mucus-secreting glands, causing it to produce unusually thick secretions that line the air passageways. Excess mucus causes the air passageways to become clogged, making breathing difficult.  It also creates an environment conducive to bacterial growth.  In the pancreatic system, CF blocks essential digestive enzymes from the pancreas in reaching the bowel, creating improper absorption of fats and nutrients.  CF also increases the amount of salt and chloride in sweat.


The onset and severity of symptoms of CF varies.  In infants, it is characterized by vomiting, abdominal swelling, blockage of the small intestines, poor growth, and abnormally large and foul smelling stools that contain excess fat and nutrients due to malabsorption.  Onset of CF during childhood could result in chronic coughing, sleep disturbances, wheezing, chronic inflammation of airways, and recurrent lung infections.  Progression of the disease may result in permanent lung damage, respiratory failure and/or heart failure.


A standard diagnostic test for CF is the sweat test.  The sweat test measures the concentration of salt in the sweat of an individual.  Very high concentration of salt in the sweat is a good indicator of CF and further genetic tests can be performed to verify the diagnosis. 


Treatment for CF includes removal of the excess mucus.  Antibiotics are often used to treat lung infections and affected individuals are generally placed on an enriched diet, supplemented with vitamins, to ensure that they are getting the proper amount of nutrients.  Gene therapy is also currently being explored as an option for patients.


Due to the high frequency of carriers among Americans, testing is strongly recommended to those with a family history of Cystic Fibrosis.  Recently, the American College of Obstetricians and Gynecologists urged Congress to provide for CF testing of everyone who plans to have a child.  Affected couples should also consider Pre-Implantation Genetic Diagnosis (PGD).  PGD tests an embryo for genetic defects before implantation.  PGD ensures couples that their children will not inherit the disease.



Click here for more information on PGD


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Last modified: 06/09/04