SupplementGuidelines for Diagnosis of Cystic Fibrosis in Newborns through Older Adults: Cystic Fibrosis Foundation Consensus Report
Section snippets
Sweat Chloride Test
The measurement of sweat electrolyte concentrations has been the mainstay of diagnosing CF since a standardized procedure, known as the Gibson-Cooke method, was established in 1959.24 Subsequent analysis of isolated single sweat ducts identified chloride as the principle electrolyte affected in CF.25 The discovery of CFTR confirmed the role of electrolyte transport in the etiology of CF and gave a molecular rationale to the sweat test for diagnosing CF. Although the ability to test for CFTR
Conclusion
The diagnostic procedures recommended herein recognize the wide possible range of disease severity and permit some leeway in the diagnosis of an individual while still creating a threshold for a diagnosis of CF. As was the case in 1996, the recommendations are based on the current state of the knowledge and should be considered a “work in progress,” leaving room for improvement resulting from increased insight into CF manifestations, genetics, and pathobiology. Nevertheless, it is hoped that
Author Disclosures
Philip M. Farrell, MD, PhD serves the Cystic Fibrosis Foundation as national facilitator for implementation of newborn screening and receives compensation for his efforts. Terry B. White, PhD who compiled the first draft of the manuscript, is an employee of the Cystic Fibrosis Foundation. Garry R. Cutting, MD holds patents on 2 of the CFTR mutations in the ACMG Panel suggested in this article for use in DNA analysis (Table II), as well as patents on CFTR mutations not included in the ACMG
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Supported by funds from the Cystic Fibrosis Foundation.
Please see the Author Disclosure section at the end of this article.
No reprints are available from the authors.