Primary ciliary dyskinesia diagnostic study of choice: Difference between revisions

Jump to navigation Jump to search
VisualWikitext
(Created page with "__NOTOC__ {{Primary ciliary dyskinesia}} {{CMG}} {{AE}}{{Hafsa}} == Overview == == Diagnostic Study of Choice == === Study of choice === [Name of the investigation] is the...")
 
 
(14 intermediate revisions by one other user not shown)
Line 4: Line 4:
{{CMG}} {{AE}}{{Hafsa}}
{{CMG}} {{AE}}{{Hafsa}}


== Overview ==
==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 ==
==Diagnostic Study of Choice==


=== Study of choice ===
===Study of choice===
[Name of the investigation] is the gold standard test for the diagnosis of [disease name].
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>
*Nasal [[nitric oxide]] test (nNo)
*Assessment of ciliary ultrastructure by Transmission Electron Microscopy(TEM), [[Gold standard (test)|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 [[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>
*[[Electron microscopy]] [[Tomography|Tomography.]]
*[[Semen analysis]].


OR
=====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.


The following result of [gold standard test] is confirmatory of [disease name]:
===Name of Diagnostic Criteria===
* [Result 1]
Candidates presenting with any of the following should be tested to rule out PCD,
* [Result 2]


OR
*[[Situs inversus]] with [[respiratory]] or [[nasal]] symptoms
 
*[[Neonates]] born with [[respiratory distress]] of unknown origin
[Name of the investigation] must be performed when:
*A Sibling with primary ciliary dyskinesia (PCD ) or a daily life-long wet cough
* The patient presents with [symptom/sign 1], [symptom/sign 2], and [symptom/sign 3].
*If suspecting [[cystic fibrosis]], also discuss testing for PCD especially if [[rhinitis]], [[Sinusitis|sinusitis,]] or glue ear symptoms are present.
* A [name of test] is positive for [sign 1], [sign 2], and [sign 3] in the patient.
*[[Bronchiectasis]] of unknown [[Etiology|etiology.]]
 
*Serous [[otitis media]] in association with upper and lower respiratory disease.
OR
*[[Cardiac disease]] associated with heterotaxy.
 
[Name of the investigation] is the gold standard test for the diagnosis of [disease name].
 
OR
 
The diagnostic study of choice for [disease name] is [name of the investigation].
 
OR
 
There is no single diagnostic study of choice for the diagnosis of [disease name].
 
OR
 
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].
 
OR
 
[Disease name] is primarily diagnosed based on the clinical presentation.
 
OR
 
Investigations:
* Among the patients who present with clinical signs of [disease name], the [investigation name] is the most specific test for the diagnosis.
* Among the patients who present with clinical signs of [disease name], the [investigation name] is the most sensitive test for diagnosis.
* Among the patients who present with clinical signs of [disease name], the [investigation name] is the most efficient test for diagnosis.
 
==== The comparison of various diagnostic studies for [disease name] ====
{|
|- style="background: #4479BA; color: #FFFFFF; text-align: center;"
! style="background: #4479BA; color: #FFFFFF; text-align: center;" | Test
! 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> [Name of test with higher sensitivity and specificity] is the preferred investigation based on the sensitivity and specificity</small>
 
===== Diagnostic results =====
The following finding(s) on performing [investigation name] is(are) confirmatory for [disease name]:
* [Finding 1]
* [Finding 2]
 
===== Sequence of Diagnostic Studies =====
The [name of investigation] must 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.
 
OR
 
The various investigations must be performed in the following order:
* [Initial investigation]
* [2nd investigation]
 
=== Name of Diagnostic Criteria ===
 
'''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.'''
 
[Disease name] is primarily diagnosed based on clinical presentation. There are no established criteria for the diagnosis of [disease name].
 
OR
 
There is no single diagnostic study of choice for [disease name], though [disease name] may be diagnosed based on [name of criteria] established by [...].
 
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==
==References==

Latest revision as of 12:51, 23 September 2021

Primary ciliary dyskinesia Microchapters

Home

Patient Information

Overview

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Primary ciliary dyskinesia from other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications and Prognosis

Diagnosis

Diagnostic Study of Choice

History and Symptoms

Physical Examination

Laboratory Findings

Electrocardiogram

X-ray

Echocardiography and Ultrasound

CT scan

MRI

Other Imaging Findings

Other Diagnostic Studies

Treatment

Medical Therapy

Surgery

Interventions

Primary Prevention

Secondary Prevention

Cost-Effectiveness of Therapy

Future or Investigational Therapies

Case Studies

Case #1

Primary ciliary dyskinesia diagnostic study of choice On the Web

Most recent articles

Most cited articles

Review articles

CME Programs

Powerpoint slides

Images

American Roentgen Ray Society Images of Primary ciliary dyskinesia diagnostic study of choice

All Images
X-rays
Echo & Ultrasound
CT Images
MRI

Ongoing Trials at Clinical Trials.gov

US National Guidelines Clearinghouse

NICE Guidance

FDA on Primary ciliary dyskinesia diagnostic study of choice

CDC on Primary ciliary dyskinesia diagnostic study of choice

Primary ciliary dyskinesia diagnostic study of choice in the news

Blogs on Primary ciliary dyskinesia diagnostic study of choice

Directions to Hospitals Treating Primary ciliary dyskinesia

Risk calculators and risk factors for Primary ciliary dyskinesia diagnostic study of choice

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]

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,

References

  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".

Template:WH Template:WS

Retrieved from "https://www.wikidoc.org/index.php?title=Primary_ciliary_dyskinesia_diagnostic_study_of_choice&oldid=1714718"