History
Cystic fibrosis affects the cells that produce mucus, sweat and digestive juices. These secreted fluids are normally thin and slippery.
In 1938, American pathologist Dr. Dorothy Andersen provided the first description of the disorder in the medical literature, calling the disease “cystic fibrosis of the pancreas” based on her autopsy findings of children who died of malnutrition. Other physicians of the era referred to the disease as “mucoviscidosis,” which called attention to the presence of thickened mucus.
The modern history of CF is dominated by the definition of the underlying genetic defect and the rapid increase in survival following the introduction of improved therapies.
In a New York City emergency room, during a heat wave in the summer of 1948, Dr. Paul di Sant’Agnese observed infants who were dehydrated. He discovered that the sweat of children with CF had abnormally high concentrations of salt. In the 1980s, the protein defect was described, and the responsible gene (CFTR) was identified and its genetic code sequenced. With each decade, new therapies have been introduced, leading to a dramatic increase in survival.
Symptoms and Complications
The thick and sticky mucus associated with cystic fibrosis clogs the tubes that carry air in and out of your lungs. This can cause signs and symptoms such as:
A persistent cough that produces thick mucus (sputum)
Wheezing
Exercise intolerance
Repeated lung infections
Inflamed nasal passages or a stuffy nose
Recurrent sinusitis
