Cystic fibrosis diagnostic study of choice: Difference between revisions
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{{CMG}}; {{AE}} {{SHH}} | {{CMG}}; {{AE}} {{SHH}} | ||
== Overview == | == 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 is indicates that cystic fibrosis is unlikely. | The [[Sweat test|sweat chloride test]] is the [[Gold standard (test)|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 [[Cystic fibrosis transmembrane conductance regulator|CFTR]] [[Genetic testing|genetic analysis]] and less than 30 is indicates that cystic fibrosis is unlikely. | ||
== Diagnostic Study of Choice == | == Diagnostic Study of Choice == | ||
=== Study of choice: === | === Study of choice: === | ||
* The sweat chloride test is the gold standard test for the diagnosis of cystic fibrosis.<ref name="pmid28538779">{{cite journal |vauthors=Servidoni MF, Gomez CCS, Marson FAL, Toro AADC, Ribeiro MÂGO, Ribeiro JD, Ribeiro AF |title=Sweat test and cystic fibrosis: overview of test performance at public and private centers in the state of São Paulo, Brazil |journal=J Bras Pneumol |volume=43 |issue=2 |pages=121–128 |date= 2017 |pmid=28538779 |pmc=5474375 |doi=10.1590/S1806-37562016000000076 |url=}}</ref><ref name="pmid18639722">{{cite journal |vauthors=Farrell PM, Rosenstein BJ, White TB, Accurso FJ, Castellani C, Cutting GR, Durie PR, Legrys VA, Massie J, Parad RB, Rock MJ, Campbell PW |title=Guidelines for diagnosis of cystic fibrosis in newborns through older adults: Cystic Fibrosis Foundation consensus report |journal=J. Pediatr. |volume=153 |issue=2 |pages=S4–S14 |date=August 2008 |pmid=18639722 |pmc=2810958 |doi=10.1016/j.jpeds.2008.05.005 |url=}}</ref> | * The [[Sweat test|sweat chloride test]] is the [[Gold standard (test)|gold standard test]] for the [[diagnosis]] of cystic fibrosis.<ref name="pmid28538779">{{cite journal |vauthors=Servidoni MF, Gomez CCS, Marson FAL, Toro AADC, Ribeiro MÂGO, Ribeiro JD, Ribeiro AF |title=Sweat test and cystic fibrosis: overview of test performance at public and private centers in the state of São Paulo, Brazil |journal=J Bras Pneumol |volume=43 |issue=2 |pages=121–128 |date= 2017 |pmid=28538779 |pmc=5474375 |doi=10.1590/S1806-37562016000000076 |url=}}</ref><ref name="pmid18639722">{{cite journal |vauthors=Farrell PM, Rosenstein BJ, White TB, Accurso FJ, Castellani C, Cutting GR, Durie PR, Legrys VA, Massie J, Parad RB, Rock MJ, Campbell PW |title=Guidelines for diagnosis of cystic fibrosis in newborns through older adults: Cystic Fibrosis Foundation consensus report |journal=J. Pediatr. |volume=153 |issue=2 |pages=S4–S14 |date=August 2008 |pmid=18639722 |pmc=2810958 |doi=10.1016/j.jpeds.2008.05.005 |url=}}</ref> | ||
* The sweat chloride test should be performed when:<ref name="pmid28129811">{{cite journal |vauthors=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 |title=Diagnosis of Cystic Fibrosis: Consensus Guidelines from the Cystic Fibrosis Foundation |journal=J. Pediatr. |volume=181S |issue= |pages=S4–S15.e1 |date=February 2017 |pmid=28129811 |doi=10.1016/j.jpeds.2016.09.064 |url=}}</ref> | * The [[Sweat test|sweat chloride test]] should be performed when:<ref name="pmid28129811">{{cite journal |vauthors=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 |title=Diagnosis of Cystic Fibrosis: Consensus Guidelines from the Cystic Fibrosis Foundation |journal=J. Pediatr. |volume=181S |issue= |pages=S4–S15.e1 |date=February 2017 |pmid=28129811 |doi=10.1016/j.jpeds.2016.09.064 |url=}}</ref> | ||
** Positive newborn screening | ** Positive newborn [[Screening (medicine)|screening]] | ||
** Signs and/or symptoms of cystic fibrosis | ** [[Medical sign|Signs]] and/or [[Symptom|symptoms]] of cystic fibrosis | ||
** Positive family history | ** Positive [[family history]] | ||
=== Diagnostic results: === | === Diagnostic results: === | ||
Revision as of 18:27, 8 March 2018
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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 is indicates that cystic fibrosis is unlikely.
Diagnostic Study of Choice
Study of choice:
- The sweat chloride test is the gold standard test for the diagnosis of cystic fibrosis.[1][2]
- The sweat chloride test should be performed when:[3]
- Positive newborn screening
- Signs and/or symptoms of cystic fibrosis
- Positive family history
Diagnostic results:
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 | ||||||||||||||||||||||||||||||||||||
| EF diagnosis | CF unlikely | ||||||||||||||||||||||||||||||||||||
References
- ↑ 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)
- ↑ 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.
- ↑ 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.
- ↑ 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.