The History of Cystic Fibrosis

Abstract

Humans have died from CF for thousands of years, while, the fi rst 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 fi brosis 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 identifi cation 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 identifi ed 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 confi rmed with the identifi cation 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.

Multi-Organ Pathogenesis and Therapeutic Strategies for Cystic Fibrosis

“…Several more studies were required to understand the whole picture of multiorgan pathology and cystic fibrosis. The direct correlation between the cellular effects of cystic fibrosis, abnormal secretions, which block the excretory pathways of the exocrine glands might be responsible for the abscesses observed in the lungs, liver, and pancreas of patients affected by cystic fibrosis was described by Martin Bodian in 1952 [4] [7]. Concerted efforts in the 1980s finally revealed that dysfunction of the epithelial tissue was a hallmark of all tissues affected by cystic fibrosis and that the inability of the epithelial tissue to absorb chloride is responsible for salty sweats observed in patients suffering from cystic fibrosis [4] [8] [9].…”

“…Perhaps, the first medical autopsy report that represents the extensive and devastating effects of what could be cystic fibrosis can be attributed to Georg Seger's examination of a threeyear-old child who suffered from malnutrition, diarrhea, loss of weight, vomiting, high body temperature, and pancreatic cirrhosis [3]. Further reports by Nils Rosén von Rosenstein in 1740, describe cystic fibrosis symptoms such as swellings of the hands and feet, diarrhea, pancreatic lesions, and malabsorption [4].…”

Newborn Cystic Fibrosis Diagnosis Made Accurate and Efficient with Machine Learning to Reduce False Positives in IRT-Trypsinogen Immunoreactive Screening Program

“…In 1936, a relationship was established between cystic fibrosis and celiac disease [8]. Two years later, it was found that patients with CF in the pancreas who survived at least one year were clinically indistinguishable from patients with celiac disease, establishing that celiac disease can be diagnosed by this pathology [10].…”

“…Cystic fibrosis (CF) has been a deadly disease for thousands of years, although it was not identified by that name initially. In ancient folkloric records from northern Europe, a saying was recorded that if a child had a salty taste when kissed, he or she would be "bewitched" and die prematurely [8]. Today, it is known that the large amount of salt in sweat is a classic sign of CF, and families may detect it when kissing a newborn with CF, who has a salty taste [9].…”