History of CF and Diagnostic Testing

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The page below is a sample from the LabCE course Laboratory Diagnosis of Cystic Fibrosis. Access the complete course and earn ASCLS P.A.C.E.-approved continuing education credits by subscribing online.

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History of CF and Diagnostic Testing

An early description of CF dates back to the 17th century in a European song containing the words, “The child will soon die whose forehead tastes salty when kissed."1 This description refers to the increased sweat sodium and chloride in patients with the disease. In 1938, a physician, Dr. Dorothy Andersen, is credited with one of the first pathological descriptions of the disease, calling it “cystic fibrosis of the pancreas.” This description was based on the presence of scar tissue and cysts in the pancreas that were noted at the autopsy of patients with lung disease. The association between increased sweat electrolytes and fibrocystic disease of the pancreas was made in the 1950s. In 1959, Dr. Gibson and Dr. Cooke described the Quantitative Pilocarpine Iontophoresis Test (QPIT), also known as the "sweat test," for the diagnosis of CF. This test methodology still remains the gold standard for diagnosing the disorder.
Newborn screening for CF was initiated in New Zealand in 1979 and now occurs in many countries, including all fifty states in the United States.
The CF gene, cystic fibrosis transmembrane conductance regulator (CFTR), was identified in 1989 by a multicenter consortium led by Drs. Collins, Tsui, and Riordan.
The outlook for individuals with cystic fibrosis continues to improve with early detection through newborn screening and advances in treatment. In the 1950s, the median survival age for patients with CF was age 2. As of 2021, the median survival age had increased to age 50 for the first time ever. It is now estimated that over half of all CF patients are adults.2
1. Littlewood J. The history of cystic fibrosis. https://jimlittlewood.com/the-history-of-cystic-fibrosis/
2. Cystic Fibrosis Foundation Patient Registry. Annual Report 2021. Bethesda MD. Available at https://www.cff.org/sites/default/files/2022-06/2021-Annual-Report.pdf.