History of cystic fibrosis

Cystic fibrosis, CF, mucovoidosis or mucoviscidosis is a relativelyrare genetic disorder. Patients suffering from this disease experience: excessproduction of mucus, severe coughing and shortness of breath. Also, babies bornwith this disease suffer from Meconium ileus attack. Other cystic fibrosispatients might suffer from impotence, caused by the congenital absence of thevas deferens (the vessel which transports the sperm from epididymis).

In the US there is a 1:4000 probability that a Caucasian childwill have this disorder, while the risk is much lower among African and AsianAmericans. However, the highest incidence of the CF carriers (carry the mutatedgene for the CF) is recorded in Mediterranean descendants and the Finnishpeople.

First Records of the Disease

First written words about cystic fibrosis were found in the Swissand German 18th century literature. The authors warned the publicthat a child whose forehead is salty is destined to die very soon, thus associatingthe loss of salt from the body and the disease.

Until the beginning of the 19th century, littlewas known about the disease, but some death cases were recorded, linked tomeconium peritonitis. The condition was described and documented shortly afterthat. Today, we know that cystic fibrosis attack is connected with meconiumileus.

1930s were turning point, since then doctors and scientists foundout that bronchiectasis, celiac disease and cystic fibrosis are connected and describedthis medical condition in details in a study published in American Journal of Diseasesof Children.

In 1938 cystic fibrosis is described as definite illness andin 1943 it was recognized as the generalized disease, called mucoviscidosis.

Progress in CF Diagnosis

Scientists gradually recognized symptoms and causes of thisfatal disease. First, they realized that the disorder is characterized by thethick mucus in the ducts. By deduction, they came to conclusion that CF isautosomal recessive gene disease and that there is a problem in the epithelialtissue in the body, since it wasn’t permeable for chlorides.

Sweat test is discovered in 1952 and it has been used sincethat time. This test, although improved and further developed, is still foundto be the most reliable way to confirm the diagnosis of cystic fibrosis.

The gene that is responsible for the cystic fibrosis is isolatedin 1989 and the protein produced by the gene was named CFTR (CF transmembraneregulator). Chromosome seven, the long arm of this chromosome in particular, isfound to be the exact place of the DNA abnormality. Changes in this chromosomescause production of incorrect protein (CFTR) and that proteins blockstransportation of chloride ions. All symptoms of this disease are caused by theblockage of these chloride ions.