Cystic fibrosis, CF, mucovoidosis or mucoviscidosis is a relatively rare genetic disorder. Patients suffering from this disease experience: excess production of mucus, severe coughing and shortness of breath. Also, babies born with this disease suffer from Meconium ileus attack. Other cystic fibrosis patients might suffer from impotence, caused by the congenital absence of the vas deferens (the vessel which transports the sperm from epididymis).
In the US there is a 1:4000 probability that a Caucasian child will have this disorder, while the risk is much lower among African and Asian Americans. However, the highest incidence of the CF carriers (carry the mutated gene for the CF) is recorded in Mediterranean descendants and the Finnish people.
First Records of the Disease
First written words about cystic fibrosis were found in the Swiss and German 18th century literature. The authors warned the public that a child whose forehead is salty is destined to die very soon, thus associating the loss of salt from the body and the disease.
Until the beginning of the 19th century, little was known about the disease, but some death cases were recorded, linked to meconium peritonitis. The condition was described and documented shortly after that. Today, we know that cystic fibrosis attack is connected with meconium ileus.
1930s were turning point, since then doctors and scientists found out that bronchiectasis, celiac disease and cystic fibrosis are connected and described this medical condition in details in a study published in American Journal of Diseases of Children.
In 1938 cystic fibrosis is described as definite illness and in 1943 it was recognized as the generalized disease, called mucoviscidosis.
Progress in CF Diagnosis
Scientists gradually recognized symptoms and causes of this fatal disease. First, they realized that the disorder is characterized by the thick mucus in the ducts. By deduction, they came to conclusion that CF is autosomal recessive gene disease and that there is a problem in the epithelial tissue in the body, since it wasn’t permeable for chlorides.
Sweat test is discovered in 1952 and it has been used since that time. This test, although improved and further developed, is still found to be the most reliable way to confirm the diagnosis of cystic fibrosis.
The gene that is responsible for the cystic fibrosis is isolated in 1989 and the protein produced by the gene was named CFTR (CF transmembrane regulator). Chromosome seven, the long arm of this chromosome in particular, is found to be the exact place of the DNA abnormality. Changes in this chromosomes cause production of incorrect protein (CFTR) and that proteins blocks transportation of chloride ions. All symptoms of this disease are caused by the blockage of these chloride ions.