A diagnosis of cystic fibrosis has greatly changed in the past three decades. Children who are born with the disease today have a completely different prognosis from those born 30 years ago. While the diagnosis was possible through a sweat test, there were no methods of treatment and the mucus would rapidly accumulate in the lungs and digestive tracts of CF patients. There were also no effective antibiotics for the treatment of infections, and the digestive and pancreatic manifestations of the disease frequently resulted in delayed growth and malnutrition.
“In 1962, the predicted median survival for CF patients was about 10 years, with few surviving into their teenage years,” according to the National Institutes of Health regarding past CF treatment and life expectancy. “NIH researchers discovered that the underlying problem in patients with CF was a defect in salt transport through their cell membranes. The CF transmembrane conductance regulator (CFTR) gene, which is defective in people with CF, was discovered in 1989. Carrier detection and prenatal diagnosis of CF were developed for families with a history of the disease. Mouse models of the disease were developed in the early 1990s, but unlike humans, mice without CFTR did not exhibit typical symptoms of CF, including the lung and liver disease that cause the premature mortality seen in humans.”
Research achievements have resulted in the quadruplication of median life expectancy in the U. S., but in countries where medicine is not so advanced life expectancy remains much lower. In all U.S. states, newborn screening for CF is performed even when there are no symptoms. In addition, there are already antibiotics able to fight infections, other medications designed to slow the progression of lung disease, and new mechanical chest physical therapy devices that loosen the mucus and make it easier for patients to clear their lungs. Lung transplant has also become an alternative for the treatment of CF patients with severe lung damage.
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