Cystic Fibrosis is a genetic disease in where the Cystic Fibrosis Trans-membrane Conductance Regulator gene produces a mutated ABC transporter-class ion channel protein that is normally supposed to export salt from epithelial cells. The protein does not work properly and the mucus outside of the epithelial cell becomes abnormally thick. This thick mucus clogs the airways and can lead to a bacterial infection in the lungs. It can also affect the digestive system by stopping digestive enzymes from reaching the intestines because of ducts in the pancreas.
Cystic Fibrosis was first discovered in 1938 by an American Pathologist, Dorothy Andersen. She conducted an autopsy on a patient that had died of malnutrition. She described the disease as Cystic Fibrosis of the pancreas and it was also often called mucoviscidosis because of the abnormally thick mucus.
US- effects about 30,000 people a year; 900-1,000 diagnosed every year; incidence rate: 1 in every 3,400 babies
World- effects about 70,000 people a year; incidence rate: 1 in every 2,000- 3,000 babies; very few diagnoses in Asia and rest of the world
Cystic fibrosis is common in all racial and ethnic backgrounds; more common in Caucasians of Northern European ancestry
Symptoms: coughing, wheezing, salty skin, low weight, greasy stools
In normal people, the salt content of the sweat is 2-5 times more so it can be tested and analyzed. In newborns they test a protein called trypsinogen. Lastly, they can test the blood to detect a faulty CFTR gene.
Treatments include: clapped on the back to free chest mucus, inhaled antibiotics to kill the bacteria in the lungs, bronchodilators to keep airways open, pancreatic enzyme replacement therapy to aid digestion, gene therapy- healthy CFTP is inserted into patient’s lung cell to replace unhealthy cells
Prognosis has drastically increased over the last few decades. Currently in the United States, the life expectancy is averaged at 37 years. There is a lot of controversy over whether early diagnosis affects the prognosis. Most patients stay healthy through childhood and it doesn't worsen until adulthood. They often will develop a worse condition like a lung infection and die early in their adulthood.
The genetic pattern in recessive. Both of the parents must have a mutated gene for the disease to be inherited. If one is inherited they will be a carrier of the faulty gene.
Recently there was an international research group that updated the guidelines for diagnosing cystic fibrosis properly and giving the correct treatment. They became more familiar with the disease after studying mutations that cause the disease. Scientists now use the CFTR2 to determine if there is genetic evidence of Cystic Fibrosis. Doctors used to use 23 mutation panel to as one of the ways to find Cystic Fibrosis that began in 2004. This will lead to more information on the disease because we are more informed and have better ability to seek appropriate care faster.
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