Primary ciliary dyskinesia diagnostic study of choice: Difference between revisions

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Latest revision as of 12:51, 23 September 2021

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Hafsa Ghaffar, M.B.B.S [2]

Overview

A high level of suspicion is required to warrant early diagnosis and initiation of appropriate management before irreversible lung damage ensues. Diagnostic investigations are complex, requiring expensive arrangements and an experienced team of clinicians and scientists. People with persistent respiratory symptoms such as rhinitis, rhino-sinusitis, infertility, recurrent otitis media should seek medical care and undergo further testing. Nasal nitric oxide levels are low in PCD and should be performed as a screening test. Transmission electron microscopy to assess the ultrastructure of cilia is another important investigation that can confirm the diagnosis.

Diagnostic Study of Choice

Study of choice

There is no single diagnostic test for primary ciliary dyskinesia. A combination of the following techniques could contribute to the diagnosis of Primary ciliary dyskinesia.^[1]

Nasal nitric oxide test (nNo)
Assessment of ciliary ultrastructure by Transmission Electron Microscopy(TEM), Gold standard.
Ciliary beat frequency CBF and Ciliary beat pattern CBP.
Radio-aerosol MCC
Direct video cinematography or oscillography to analyse ciliary beat waveform.
Bronchial ciliary biopsy.^[2]
Electron microscopy Tomography.
Semen analysis.

Sequence of Diagnostic Studies

Electron microscopy should be performed when standard microscopy fails to establish the diagnosis. Repeat testing is often required as most tests are inconclusive.

Name of Diagnostic Criteria

Candidates presenting with any of the following should be tested to rule out PCD,

Situs inversus with respiratory or nasal symptoms
Neonates born with respiratory distress of unknown origin
A Sibling with primary ciliary dyskinesia (PCD ) or a daily life-long wet cough
If suspecting cystic fibrosis, also discuss testing for PCD especially if rhinitis, sinusitis, or glue ear symptoms are present.
Bronchiectasis of unknown etiology.
Serous otitis media in association with upper and lower respiratory disease.
Cardiac disease associated with heterotaxy.

References

↑ Lucas JS, Burgess A, Mitchison HM, Moya E, Williamson M, Hogg C; et al. (2014). "Diagnosis and management of primary ciliary dyskinesia". Arch Dis Child. 99 (9): 850–6. doi:10.1136/archdischild-2013-304831. PMC 4145427. PMID 24771309.
↑ "Primary Ciliary Dyskinesia Workup: Laboratory Studies, Imaging Studies, Other Tests".

Template:WH Template:WS

[pmid24771309-1] Lucas JS, Burgess A, Mitchison HM, Moya E, Williamson M, Hogg C; et al. (2014). "Diagnosis and management of primary ciliary dyskinesia". Arch Dis Child. 99 (9): 850–6. doi:10.1136/archdischild-2013-304831. PMC 4145427. PMID 24771309.

[2] "Primary Ciliary Dyskinesia Workup: Laboratory Studies, Imaging Studies, Other Tests".

[1]

[2]

@@ Line 5: / Line 5: @@
 ==Overview==
+A high level of suspicion is required to warrant early diagnosis and initiation of appropriate management before irreversible lung damage ensues. Diagnostic investigations are complex, requiring expensive arrangements and an experienced team of clinicians and scientists. People with persistent respiratory symptoms such as [[rhinitis]], [[Rhinosinusitis|rhino-sinusitis]], [[infertility]], recurren[[Otitis media|t otitis media]] should seek medical care and undergo further testing. Nasal [[nitric oxide]] levels are low in PCD and should be performed as a [[screening test]]. [[Transmission electron microscopy]] to assess the [[ultrastructure]] of [[cilia]] is another important investigation that can confirm the diagnosis.
 ==Diagnostic Study of Choice==
 ===Study of choice===
-There is no single diagnostic test for Primary ciliary dyskinesia.
+There is no single diagnostic test for primary ciliary dyskinesia. A combination of the following techniques could contribute to the [[diagnosis]] of Primary ciliary dyskinesia.<ref name="pmid24771309">{{cite journal| author=Lucas JS, Burgess A, Mitchison HM, Moya E, Williamson M, Hogg C | display-authors=etal| title=Diagnosis and management of primary ciliary dyskinesia. | journal=Arch Dis Child | year= 2014 | volume= 99 | issue= 9 | pages= 850-6 | pmid=24771309 | doi=10.1136/archdischild-2013-304831 | pmc=4145427 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24771309  }} </ref>
-OR
+*Nasal [[nitric oxide]] test (nNo)
+*Assessment of ciliary ultrastructure by Transmission Electron Microscopy(TEM), [[Gold standard (test)|Gold standard]].
-The following result of [gold standard test] is confirmatory of [disease name]:
+*Ciliary beat frequency CBF and Ciliary beat pattern CBP.
+*Radio-aerosol MCC
-*Nasal nitric oxide test (NO)
+*Direct video cinematography or oscillography to analyse ciliary beat waveform.
-*Assessment of ciliary ultrastructure by Transmission Electron Microscopy(TEM), Gold standard.
+*Bronchial [[Biopsy|ciliary biopsy]].<ref>{{cite web |url=https://emedicine.medscape.com/article/1002319-workup#c7 |title=Primary Ciliary Dyskinesia Workup: Laboratory Studies, Imaging Studies, Other Tests |format= |work= |accessdate=}}</ref>
-*Ciliary beat frequency and ciliary beat pattern.
+*[[Electron microscopy]] [[Tomography|Tomography.]]
-*Electron mIcroscopy Tomography.
+*[[Semen analysis]].
-*
 =====Sequence of Diagnostic Studies=====
-The [name of investigation] must be performed when:
+[[Electron microscopy]] should be performed when standard microscopy fails to establish the diagnosis. Repeat testing is often required as most tests are inconclusive.
-*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.
-OR
-The various investigations must be performed in the following order:
-*[Initial investigation]
-*[2nd investigation]
 ===Name of Diagnostic Criteria===
+Candidates presenting with any of the following should be tested to rule out PCD,
-'''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.'''
+*[[Situs inversus]] with [[respiratory]] or [[nasal]] symptoms
+*[[Neonates]] born with [[respiratory distress]] of unknown origin
-[Disease name] is primarily diagnosed based on clinical presentation. There are no established criteria for the diagnosis of [disease name].
+*A Sibling with primary ciliary dyskinesia (PCD ) or a daily life-long wet cough
+*If suspecting [[cystic fibrosis]], also discuss testing for PCD especially if [[rhinitis]], [[Sinusitis|sinusitis,]] or glue ear symptoms are present.
-OR
+*[[Bronchiectasis]] of unknown [[Etiology|etiology.]]
+*Serous [[otitis media]] in association with upper and lower respiratory disease.
-There is no single diagnostic study of choice for [disease name], though [disease name] may be diagnosed based on [name of criteria] established by [...].
+*[[Cardiac disease]] associated with heterotaxy.
-OR
-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].
-OR
-The diagnosis of [disease name] is based on the [criteria name] criteria, which includes [criterion 1], [criterion 2], and [criterion 3].
-OR
-[Disease name] may be diagnosed at any time if one or more of the following criteria are met:
-*Criteria 1
-*Criteria 2
-*Criteria 3
-OR
-'''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].
-OR
-The diagnosis of [disease name] is based on the [criteria name] criteria, which include [criterion 1], [criterion 2], and [criterion 3].
-OR
-The diagnosis of [disease name] is based on the [definition name] definition, which includes [criterion 1], [criterion 2], and [criterion 3].
-OR
-'''IF there are no established diagnostic criteria'''
-There are no established criteria for the diagnosis of [disease name].
 ==References==