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Cystic Fibrosis

Question

11/14/2006

Question:

Who discovered cystic fibrosis?

Answer:

The "discovery" of cystic fibrosis was less one of discovery as an evolution of understanding. There have been "old wives tales" describing cystic fibrosis since the middle ages. These tales recognize that an infant who tastes salty when kissed is likely to die. Early quotes include:

"IF IT TASTES SALTY WHEN SOMEONE IS KISSED ON THE BROW, THEN THIS PERSON IS HEXED." (The Dictionary of the Swiss Language)

"THE CHILD WILL SOON DIE WHOSE BROW TASTES SALTY WHEN KISSED." (Almanac of Children's Songs and Games from Switzerland)

In the 1900s there were sporatic case descriptions that were consistent with CF, but Anderson in 1938 provided the first comprehensive description of the disease. In this description, the emphysis was on pancreatic disease, malabsorption and death from malnutrition. Most patients did not live long enough to develop extensive lung diesase, although some evidence of the lung involvement was included.

In 1953, Paul Di Sant Agenes identified the defect in CF as an abnormality in salt loss, which lead to the development of the sweat chloride test, still the primary method of diagnosing the disease. By 1963, Knowles and Quinton both recognized the salt defect as an abnormality in chloride secretion.

It was not until 1989 that Riordan and colleagues identified and cloned the gene responsible for the defect, cystic fibrosis transmembrane conduction regulator (CFTR).

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Response by:

Patricia   Joseph, MS, MD Patricia Joseph, MS, MD
Associate Professor of Medicine
College of Medicine
University of Cincinnati