Cystic fibrosis diagnostic study of choice

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Shaghayegh Habibi, M.D.[2]

Overview

The sweat chloride test is the gold standard test for the diagnosis of cystic fibrosis. A sweat chloride value of more than 59 mmol/L is diagnostic for cystic fibrosis, 30-59 mmol/L needs more evaluation with CFTR genetic analysis and less than 30 indicates that cystic fibrosis is unlikely.

Diagnostic Study of Choice

Study of choice:

Diagnostic Approach:

The results of sweat chloride test are considered as follow:[4]

 
 
 
 
 
 
 
 
Sweat chloride test
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
≥60 mmol/L
 
 
 
30-59 mmol/L
 
 
 
≤29 mmol/L
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
CFTR genetic analysis
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
2 CF-causing CFTR mutation
 
No CFTR mutations
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
CF diagnosis
 
 
 
 
 
 
 
 
 
CF unlikely

References

  1. Servidoni MF, Gomez C, Marson F, Toro A, Ribeiro M, Ribeiro JD, Ribeiro AF (2017). "Sweat test and cystic fibrosis: overview of test performance at public and private centers in the state of São Paulo, Brazil". J Bras Pneumol. 43 (2): 121–128. doi:10.1590/S1806-37562016000000076. PMC 5474375. PMID 28538779. Vancouver style error: initials (help)
  2. Farrell PM, Rosenstein BJ, White TB, Accurso FJ, Castellani C, Cutting GR, Durie PR, Legrys VA, Massie J, Parad RB, Rock MJ, Campbell PW (August 2008). "Guidelines for diagnosis of cystic fibrosis in newborns through older adults: Cystic Fibrosis Foundation consensus report". J. Pediatr. 153 (2): S4–S14. doi:10.1016/j.jpeds.2008.05.005. PMC 2810958. PMID 18639722.
  3. Farrell PM, White TB, Ren CL, Hempstead SE, Accurso F, Derichs N, Howenstine M, McColley SA, Rock M, Rosenfeld M, Sermet-Gaudelus I, Southern KW, Marshall BC, Sosnay PR (February 2017). "Diagnosis of Cystic Fibrosis: Consensus Guidelines from the Cystic Fibrosis Foundation". J. Pediatr. 181S: S4–S15.e1. doi:10.1016/j.jpeds.2016.09.064. PMID 28129811.
  4. Farrell PM, White TB, Ren CL, Hempstead SE, Accurso F, Derichs N, Howenstine M, McColley SA, Rock M, Rosenfeld M, Sermet-Gaudelus I, Southern KW, Marshall BC, Sosnay PR (February 2017). "Diagnosis of Cystic Fibrosis: Consensus Guidelines from the Cystic Fibrosis Foundation". J. Pediatr. 181S: S4–S15.e1. doi:10.1016/j.jpeds.2016.09.064. PMID 28129811.

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