Cystic Fibrosis
Cystic Fibrosis is an autosomal recessive condition that occurs in all ethnic groups. In this disorder, exocrine glands secrete abnormally thick mucus, leading to obstruction of the pancreas and persistent infections of the lungs. Individuals with this disease generally die in childhood or early adulthood. Some mildly affected patients however, may survive longer. While no cure for the disease has yet been found, patients with the disease can be treated. Those with pancreatic insufficiency can take pancreatic enzymes with meals. Others with respiratory infections are treated with antibiotics such as aerosols that relieve constriction of the airways, as well as by physical therapy to help them cough up the obstructing emissions. Intestinal obstruction, which occurs primarily in infancy, may require surgery, however. Also, clinical trials are currently under way to use the recombinant human enzyme DNAse to liquify the thick mucus. The use of gene therapy to treat cystic fibrosis is in the experimental stage as well.
The most common inherited fatal disease among Caucasians, Cystic Fibrosis occurs about once in every 2500 births. This disease�s occurrence in African American�s is much lower however, as it affects approximately one in every 17,000 births.
The gene responsible for Cystic Fibrosis was identified in 1989. It was found in chromosome 7. And since 1989, nearly200 different mutations in the cystic fibrosis gene have been discovered. Because of this, tests have been developed to detect the most common mutations of the gene. In cases where both parents are carriers of this gene there exists a one in four chance that their offspring will indeed be infected with Cystic Fibrosis.
However due to the discovery of this gene, parents can now be tested to see if they are in fact an unaffected carrier.
*All information above taken from Microsoft Encarta Encyclopedia '99
