Cystic fibrosis diagnostic study of choice: Difference between revisions

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{{CMG}}; {{AE}} {{SHH}}
{{CMG}}; {{AE}} {{SHH}}
== Overview ==
== Overview ==
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 indicates that cystic fibrosis is unlikely.


== Diagnostic Study of Choice ==
== Diagnostic Study of Choice ==
===== Template statements =====


=== Study of choice: ===
=== Study of choice: ===
* [Name of the investigation] is the gold standard test for the diagnosis of [disease name].
* 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 following result of [gold standard test] is confirmatory of [disease name]:
* 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>
** Result 1
** Positive newborn [[Screening (medicine)|screening]]
** Result 2
** [[Medical sign|Signs]] and/or [[Symptom|symptoms]] of cystic fibrosis
* 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>
** Positive [[family history]]
** Positive newborn screening
** Signs and/or symptoms of cystic fibrosis
** Positive family history
* [Name of the investigation] is the gold standard test for the diagnosis of [disease name].
* The diagnostic study of choice for [disease name] is [name of the investigation].
* There is no single diagnostic study of choice for the diagnosis of [disease name].
* There is no single diagnostic study of choice for the diagnosis of [disease name], but [disease name] can be diagnosed based on [name of the investigation 1] and [name of the investigation 2].
* [Disease name] is mainly diagnosed based on clinical presentation.
* Investigations:
** Among patients who present with clinical signs of [disease name], the [investigation name] is the most specific test for the diagnosis.
** Among patients who present with clinical signs of [disease name], the [investigation name] is the most sensitive test for diagnosis.
** Among patients who present with clinical signs of [disease name], the [investigation name] is the most efficient test for diagnosis.
 
==== The comparison table for diagnostic studies of choice for [disease name] ====
{|
|- style="background: #4479BA; color: #FFFFFF; text-align: center;"
! style="background: #FFFFFF; color: #FFFFFF; text-align: center;" |
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Sensitivity
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Specificity
|-
! style="background: #696969; color: #FFFFFF; text-align: center;" |Test 1
| style="background: #DCDCDC; padding: 5px; text-align: center;" |✔
| style="background: #DCDCDC; padding: 5px; text-align: center;" |...%
|-
! style="background: #696969; color: #FFFFFF; text-align: center;" |Test 2
| style="background: #DCDCDC; padding: 5px; text-align: center;" |...%
| style="background: #DCDCDC; padding: 5px; text-align: center;" |✔
|}
<small> ✔= The best test based on the feature </small>
 
===== Diagnostic results =====
The following result of [investigation name] is confirmatory of [disease name]:
* Result 1
* Result 2
 
===== Sequence of Diagnostic Studies =====
The [name of investigation] should be performed when:
* The patient presented with symptoms/signs 1, 2, and 3 as the first step of diagnosis.
* A positive [test] is detected in the patient, to confirm the diagnosis.
 
=== Diagnostic Criteria ===
* Here you should describe the details of the diagnostic criteria.
*Always mention the name of the criteria/definition you are about to list (e.g. modified Duke criteria for the diagnosis of endocarditis / 3rd universal definition of MI) and cite the primary source of where this criteria/definition is found.
*Although not necessary, it is recommended that you include the criteria in a table. Make sure you always cite the source of the content and whether the table has been adapted from another source.
*Be very clear as to the number of criteria (or threshold) that needs to be met out of the total number of criteria.
*Distinguish criteria based on their nature (e.g. clinical criteria / pathological criteria/ imaging criteria) before discussing them in details.
*To view an example (endocarditis diagnostic criteria), click [[Endocarditis diagnosis|here]]
*If relevant, add additional information that might help the reader distinguish various criteria or the evolution of criteria (e.g. original criteria vs. modified criteria).
*You may also add information about the sensitivity and specificity of the criteria, the pre-test probability, and other figures that may help the reader understand how valuable the criteria are clinically.
* [Disease name] is mainly diagnosed based on clinical presentation. There are no established criteria for the diagnosis of [disease name].
* There is no single diagnostic study of choice for [disease name], though [disease name] may be diagnosed based on [name of criteria] established by [...].
 
* The diagnosis of [disease name] is made when at least [number] of the following [number] diagnostic criteria are met: [criterion 1], [criterion 2], [criterion 3], and [criterion 4].
* The diagnosis of [disease name] is based on the [criteria name] criteria, which includes [criterion 1], [criterion 2], and [criterion 3].
 
* [Disease name] may be diagnosed at any time if one or more of the following criteria are met:
** Criteria 1
** Criteria 2
** Criteria 3
 
IF there are clear, established diagnostic criteria:
*The diagnosis of [disease name] is made when at least [number] of the following [number] diagnostic criteria are met: [criterion 1], [criterion 2], [criterion 3], and [criterion 4].
*The diagnosis of [disease name] is based on the [criteria name] criteria, which include [criterion 1], [criterion 2], and [criterion 3].
*The diagnosis of [disease name] is based on the [definition name] definition, which includes [criterion 1], [criterion 2], and [criterion 3].
IF there are no established diagnostic criteria: 
*There are no established criteria for the diagnosis of [disease name].


=== Diagnostic Approach: ===
The results of [[Sweat test|sweat chloride test]] are considered as follow:<ref name="pmid281298112">{{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>
{{familytree/start |summary=Sweat chloride test}}
{{familytree | | | | | | | | | A01 |A01=[[Sweat chloride test]]}}
{{familytree | | | |,|-|-|-|-|-|+|-|-|-|-|-|.| | | }}
{{familytree | | | B01 | | | | B02 | | | | B03 | | |B01=≥60 mmol/L|B02=30-59 mmol/L|B03=≤29 mmol/L}}
{{familytree | | | |!| | | | | |!| | | | | |!| }}
{{familytree | | | |!| | | | | C01 | | | | |!| | |C01=[[CFTR]] [[genetic analysis]]}}
{{familytree | | | |!| | | | | |!| | | | | |!| }}
{{familytree | | | |!| | | |,|-|^|-|.| | | |!| }}
{{familytree | | | |!|,|-| D01 | | D02 |-|.|!| | |D01=2 CF-causing [[CFTR]] [[mutation]]|D02=No [[CFTR]] [[mutations]]}}
{{familytree | | | |!|!| | | | | | | | | |!|!| }}
{{familytree | | | |!|!| | | | | | | | | |!|!| }}
{{familytree | | | E01 | | | | | | | | | | E02 |E01=CF [[diagnosis]]|E02=CF unlikely}}
{{familytree/end}}


==References==
==References==
{{Reflist|2}}
{{Reflist|2}}
{{WH}}
[[Category:Medicine]]
{{WS}}
[[Category:Up-To-Date]]
[[Category:Gastroenterology]]
[[Category:Pediatrics]]
[[Category:Pulmonology]]

Latest revision as of 20:01, 27 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 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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