Primary ciliary dyskinesia differential diagnosis: Difference between revisions
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==Overview== | ==Overview== | ||
[ | [[Primary ciliary dyskinesia]] must be differentiated from other conditions that cause [[infertility]], [[sinusitis]], [[otitis media]], and [[rhinitis]]. | ||
==Differentiating Primary ciliary dyskinesia from other Diseases== | |||
primary ciliary dyskinesia should be differentiated from other diseases that cause [[rhinosinusitis]], [[otitis media]], and [[infertility]]. | |||
[ | *[[Cystic fibrosis]] | ||
*[[Alpha1 antitrypsin deficiency]] | |||
== | *[[Allergic bronchopulmonary aspergillosis]]. | ||
=== | *[[Foreign body aspiration]] | ||
*[[Immunosuppression]].<ref>{{cite web |url=https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=244 |title=Orphanet: Primary ciliary dyskinesia |format= |work= |accessdate=}}</ref><ref>{{cite web |url=https://medlineplus.gov/lab-tests/alpha-1-antitrypsin-test/ |title=Alpha-1 Antitrypsin Test: MedlinePlus Medical Test |format= |work= |accessdate=}}</ref><ref>{{cite web |url=https://emedicine.medscape.com/article/1001602-overview |title=Cystic Fibrosis: Practice Essentials, Background, Pathophysiology |format= |work= |accessdate=}}</ref><ref>{{cite web |url=https://www.mayoclinic.org/diseases-conditions/aspergillosis/diagnosis-treatment/drc-20369623 |title=Aspergillosis - Diagnosis and treatment - Mayo Clinic |format= |work= |accessdate=}}</ref> | |||
On the basis [symptom 1], [symptom 2], and [symptom 3], [disease name] must be differentiated from [disease 1], [disease 2], [disease 3], [disease 4], [disease 5], and [disease 6]. | On the basis [symptom 1], [symptom 2], and [symptom 3], [disease name] must be differentiated from [disease 1], [disease 2], [disease 3], [disease 4], [disease 5], and [disease 6]. | ||
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|- style="background: #4479BA; color: #FFFFFF; text-align: center;" | |- style="background: #4479BA; color: #FFFFFF; text-align: center;" | ||
! rowspan="4" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Diseases | ! rowspan="4" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Diseases | ||
| colspan=" | | | ||
! colspan=" | | colspan="4" |'''Clinical manifestations''' | ||
! colspan="3" rowspan="2" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Para-clinical findings | |||
| colspan="1" rowspan="4" style="background: #4479BA; color: #FFFFFF; text-align: center;" |'''Gold standard''' | | colspan="1" rowspan="4" style="background: #4479BA; color: #FFFFFF; text-align: center;" |'''Gold standard''' | ||
|- | |- | ||
| colspan=" | | | ||
! colspan=" | | colspan="2" rowspan="2" |'''Symptoms''' | ||
! colspan="2" rowspan="2" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Physical examination | |||
|- | |- | ||
! | | | ||
! colspan=" | ! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Lab Findings | ||
! colspan="2" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Imaging | |||
|- | |- | ||
! style="background: #4479BA; color: #FFFFFF; text-align: center;" | | ! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Age Of Onset | ||
! colspan="1" rowspan="1" style="background: #4479BA; color: #FFFFFF; text-align: center;" | | ! colspan="1" rowspan="1" style="background: #4479BA; color: #FFFFFF; text-align: center;" |nasal discharge | ||
! style="background: #4479BA; color: #FFFFFF; text-align: center;" | | ! style="background: #4479BA; color: #FFFFFF; text-align: center;" |cough | ||
! style="background: #4479BA; color: #FFFFFF; text-align: center;" | | ! style="background: #4479BA; color: #FFFFFF; text-align: center;" |wheeze | ||
! colspan="1" rowspan="1" style="background: #4479BA; color: #FFFFFF; text-align: center;" | | ! colspan="1" rowspan="1" style="background: #4479BA; color: #FFFFFF; text-align: center;" |jaundice | ||
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Blood levels | |||
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Xray chest | |||
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |CT scan | |||
! style="background: #4479BA; color: #FFFFFF; text-align: center;" | | |||
! style="background: #4479BA; color: #FFFFFF; text-align: center;" | | |||
! style="background: #4479BA; color: #FFFFFF; text-align: center;" | | |||
|- | |- | ||
| style="background: #DCDCDC; padding: 5px; text-align: center;" | | | style="background: #DCDCDC; padding: 5px; text-align: center;" |Cystic fibrosis. | ||
| style="background: #F5F5F5; padding: 5px;" | | | style="background: #F5F5F5; padding: 5px;" |Infancy | ||
| style="background: #F5F5F5; padding: 5px;" | | | style="background: #F5F5F5; padding: 5px;" | + | ||
| style="background: #F5F5F5; padding: 5px;" | | | style="background: #F5F5F5; padding: 5px;" | + | ||
| style="background: #F5F5F5; padding: 5px;" | | | style="background: #F5F5F5; padding: 5px;" | + | ||
| style="background: #F5F5F5; padding: 5px;" | | | style="background: #F5F5F5; padding: 5px;" | - | ||
| style="background: #F5F5F5; padding: 5px;" | | | style="background: #F5F5F5; padding: 5px;" | - | ||
| style="background: #F5F5F5; padding: 5px;" | | | style="background: #F5F5F5; padding: 5px;" |Hyperinflation, | ||
Peri bronchial thickening | |||
| style="background: #F5F5F5; padding: 5px;" |Not indicated. | |||
| style="background: #F5F5F5; padding: 5px;" |Genotyping | |||
| style="background: #F5F5F5; padding: 5px;" | | CFTR gene mutation. | ||
| style="background: #F5F5F5; padding: 5px;" | | |||
Sweat chloride test. | |||
|- | |- | ||
| style="background: #DCDCDC; padding: 5px; text-align: center;" | | | style="background: #DCDCDC; padding: 5px; text-align: center;" | | ||
*Alpha1-Antitrypsin (AAT) Deficiency | |||
| style="background: #F5F5F5; padding: 5px;" | | | style="background: #F5F5F5; padding: 5px;" | | ||
40-50 | |||
| style="background: #F5F5F5; padding: 5px;" | | | style="background: #F5F5F5; padding: 5px;" | | ||
_ | |||
| style="background: #F5F5F5; padding: 5px;" | | | style="background: #F5F5F5; padding: 5px;" | | ||
+ | |||
| style="background: #F5F5F5; padding: 5px;" | | | style="background: #F5F5F5; padding: 5px;" | | ||
+ | |||
| style="background: #F5F5F5; padding: 5px;" | | | style="background: #F5F5F5; padding: 5px;" | | ||
+ | |||
| style="background: #F5F5F5; padding: 5px;" | | | style="background: #F5F5F5; padding: 5px;" | | ||
decreased AAT levels | |||
| style="background: #F5F5F5; padding: 5px;" |Hyper lucency in lungs. | |||
| style="background: #F5F5F5; padding: 5px;" | | | style="background: #F5F5F5; padding: 5px;" | | ||
- | |||
| style="background: #F5F5F5; padding: 5px;" |Blood test. | |||
|- | |- | ||
| style="background: #DCDCDC; padding: 5px; text-align: center;" | | | style="background: #DCDCDC; padding: 5px; text-align: center;" |Allergic Broncho pulmonary aspergillosis. | ||
| style="background: #F5F5F5; padding: 5px;" | | | style="background: #F5F5F5; padding: 5px;" |40-50 | ||
| style="background: #F5F5F5; padding: 5px;" | | | style="background: #F5F5F5; padding: 5px;" | - | ||
| style="background: #F5F5F5; padding: 5px;" | | | style="background: #F5F5F5; padding: 5px;" | + | ||
| style="background: #F5F5F5; padding: 5px;" | | | style="background: #F5F5F5; padding: 5px;" | + | ||
| style="background: #F5F5F5; padding: 5px;" | | | style="background: #F5F5F5; padding: 5px;" | - | ||
| style="background: #F5F5F5; padding: 5px;" | | | style="background: #F5F5F5; padding: 5px;" |Eosinophilia. | ||
| style="background: #F5F5F5; padding: 5px;" | | | style="background: #F5F5F5; padding: 5px;" |Round mass with air-crescent sign. | ||
| style="background: #F5F5F5; padding: 5px;" | | | style="background: #F5F5F5; padding: 5px;" |Aspergilloma on CT chest. | ||
| style="background: #F5F5F5; padding: 5px;" | | | style="background: #F5F5F5; padding: 5px;" |Sputum analysis. | ||
Lung biopsy for fungal culture | |||
|- style="background: #4479BA; color: #FFFFFF; text-align: center;" | |- style="background: #4479BA; color: #FFFFFF; text-align: center;" | ||
!Diseases | !Diseases | ||
! | !cough | ||
! colspan="1" rowspan="1" | | ! colspan="1" rowspan="1" |nasal discharge | ||
! | ! | ||
! | !wheeze | ||
! colspan="1" rowspan="1" | | ! colspan="1" rowspan="1" | | ||
!Lab 1 | !Lab 1 | ||
! | !X-ray | ||
! | !CT scan | ||
|'''Gold standard''' | |'''Gold standard''' | ||
|- | |- | ||
| style="background: #DCDCDC; padding: 5px; text-align: center;" | | | style="background: #DCDCDC; padding: 5px; text-align: center;" |Immunodeficiency. | ||
| style="background: #F5F5F5; padding: 5px;" | | | style="background: #F5F5F5; padding: 5px;" | | ||
| style="background: #F5F5F5; padding: 5px;" | | | style="background: #F5F5F5; padding: 5px;" | | ||
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{{Reflist|2}} | {{Reflist|2}} | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] |
Latest revision as of 12:42, 23 September 2021
Template:Atherosclerosis Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Hafsa Ghaffar, M.B.B.S[2]
Overview
Primary ciliary dyskinesia must be differentiated from other conditions that cause infertility, sinusitis, otitis media, and rhinitis.
Differentiating Primary ciliary dyskinesia from other Diseases
primary ciliary dyskinesia should be differentiated from other diseases that cause rhinosinusitis, otitis media, and infertility.
- Cystic fibrosis
- Alpha1 antitrypsin deficiency
- Allergic bronchopulmonary aspergillosis.
- Foreign body aspiration
- Immunosuppression.[1][2][3][4]
On the basis [symptom 1], [symptom 2], and [symptom 3], [disease name] must be differentiated from [disease 1], [disease 2], [disease 3], [disease 4], [disease 5], and [disease 6].
Diseases | Clinical manifestations | Para-clinical findings | Gold standard | ||||||
---|---|---|---|---|---|---|---|---|---|
Symptoms | Physical examination | ||||||||
Lab Findings | Imaging | ||||||||
Age Of Onset | nasal discharge | cough | wheeze | jaundice | Blood levels | Xray chest | CT scan | ||
Cystic fibrosis. | Infancy | + | + | + | - | - | Hyperinflation,
Peri bronchial thickening |
Not indicated. | Genotyping
CFTR gene mutation. Sweat chloride test. |
|
40-50 |
|
|
|
|
|
Hyper lucency in lungs. |
|
Blood test. |
Allergic Broncho pulmonary aspergillosis. | 40-50 | - | + | + | - | Eosinophilia. | Round mass with air-crescent sign. | Aspergilloma on CT chest. | Sputum analysis.
Lung biopsy for fungal culture |
Diseases | cough | nasal discharge | wheeze | Lab 1 | X-ray | CT scan | Gold standard | ||
Immunodeficiency. |