Who Discovered Cf?

A look at the facts about Cf (cystic fibrosis) shows it was first recognized as a disease in the 1930s. However, its main symptom –salty tasting skin- was recognized back in the 18th century.

History of Cystic Fibrosis

Even though it wasn’t known in the 18th century, cases where already being described. Carl von Rokitansky had already diagnosed illnesses that arose from cystic fibrosis.

Meconium ileus, which arose out of Cf, was recognized as an illness in 1905. By 1936, Guido Fanconi had published a work showing the link between cystic fibrosis, the pancreas and celiac disease.

Other important facts about Cf emerged in 1938. Dorothy Andersen wrote “Cystic Fibrosis of the Pancreas and Its Relation to Celiac Disease: a Clinical and Pathological Study”. She was the first to describe the traits of Cf of the pancreas. She was also the one who linked it with lung ailments.

It was in 1952 when Paul di Saint Agense uncovered the abnormalities in the sweat electrolytes. More research followed. In 1988, Cf mutations were discovered by Lap Chee Tsui, Francis Collins and John Riordan. By the following year, over a thousand mutations had been uncovered.

Signs and Symptoms

A lot of the facts about Cf symptoms have been discovered by scientists and researchers. These include salty tasting skin, extensive mucus production and slow growth. The latter will occur even though the person will have no loss of appetitive. Another prominent symptom will be chest related health complications.

Coughing and colds will be frequent. Among males, cystic fibrosis could lead to infertility. Often the symptoms are detectable at a very early age. Doctors today can sense its presence in newborn babies. Studies show that it is prevalent in the Western world.


Cystic fibrosis is a genetic disease. Its cause is the mutation of the gene cystic fibrosis transmembrane conductance regulator (CFTR). The disease occurs when the allele do not work.


A lot of information and facts about Cf are learned from diagnosis. Some cases of Cf can be determined by tests done on newly born babies. One common symptom is that of increased levels of immunoreactive trypsinogen.

A sweat test is also conducted to confirm preliminary exam results. The sweat test is the most common method used today. Individuals with Cf will have high amounts of sodium in their sweat.

Because Cf can cause complications, several tests are conducted. These include CAT scans and X rays. The sputum is also scrutinized using a microscope. Chest and lung exams are performed as well. These tests can also determine if complications have affected the liver or if the patient has diabetes.

Another test is DEXA. This can determine if the patient has developed back problems. It can also be used to assess problems involving the enzymes.

The only way to cure cystic fibrosis is via gene therapy. However it is very difficult and not always successful. But as more facts about Cf are learned, it is hoped that cures for the disease will be discovered.

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