The History of Cystic Fibrosis

Javier Pérez-Frías, Estela Pérez Ruiz, María del Carmen López Castillo* and Pilar Caro García

Humans have died from CF for thousands of years, while, the first clear references to the disease extend back only a few centuries. It was recorded in popular ancient folklore from Northern Europe which ensured that if you kissed a child with a salty taste, it was said to be “hexed” and would die an early death. 

In 1936 Professor Guido Fanconi established a relationship between celiac disease and cystic fibrosis of the pancreas and bronchiectasis and wrote about it in his work entitled “Familiar Pancreatic Cystic Fibromatosis with bronchiectasis”. Studying 47 families with patients suffering from this disease, Andersen and Hodges in 1946 concluded that for families, the situation was concordant with autosomal auto recessive inheritance. 

Discovery of the sweat electrolyte defect in 1953 and standardization of the sweat test in 1959 allowed identification of milder cases. The pillars of care established then (attention to nutrition, airway clearance, treatment of lung infection) remain today. 

In 1985, the gene for chromosome 7 was identified and at the end of the decade it was patent that CF was caused by poor functioning of the chloride channel dependent on cAMP. This was confirmed with the identification of the gene and its protein product (CFTR) in 1989 through the positional cloning of Lap-Chee Tsui and John Riordan (Toronto) on the same number of Science together with Francis S Collins (Michigan). In 1991, it was demonstrated that the protein CFTR forms a chloride canal and that it needs ATP hydrolysis to open. This afforded new diagnostic tests, opportunities for research, and prospects for using the gene as therapy.

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Published on: Mar 7, 2019 Pages: 1-6

Full Text PDF Full Text HTML DOI: 10.17352/ojpch.000015
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