Primary ciliary dyskinesia epidemiology and demographics: Difference between revisions
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==Overview== | ==Overview== | ||
Primary ciliary dyskinesia (PCD) is generally documented as etiology of bronchiectasis not only in children or young adults but also in older patients. | Primary ciliary dyskinesia (PCD) is generally documented as [[etiology]] of [[bronchiectasis]] not only in [[children]] or young adults but also in older patients. It is challenging to demonstrate the [[prevalence]] of PCD in diverse [[population]] with estimates varying between one in 4000 to one in 40,000. PCD is linked with the high levels of [[consanguinity]]. Clinical suspicion of PCD is high in these communities, chronic [[cough]] and [[nasal]] symptoms should rise concern for prompt [[Diagnostic testing|diagnostic testing.]] | ||
It is challenging to demonstrate the prevalence of PCD in diverse population with estimates varying between one in 4000 to one in 40,000. | |||
PCD is linked with the high levels of consanguinity. Clinical suspicion of PCD is high in these communities, chronic cough and nasal symptoms should rise concern for prompt diagnostic testing. | |||
==Epidemiology and Demographics== | ==Epidemiology and Demographics== | ||
===Incidence=== | ===Incidence=== | ||
*The | *The estimated [[incidence]] of PCD is approximately 1 per 15,000 births | ||
===Prevalence=== | ===Prevalence=== | ||
* | *PCD is a [[rare]] disorder with an estimated [[prevalence]] of 1:10,000<ref>{{cite web |url=https://breathe.ersjournals.com/content/13/3/166 |title=Diagnosis of primary ciliary dyskinesia: summary of the ERS Task Force report | European Respiratory Society |format= |work= |accessdate=}}</ref>. The prevalence of PCD is difficult to determine, primarily because of limitations in diagnostic methods that focus on testing ciliary [[ultrastructure]] and function, Because of a lack of appreciation of the cardinal signs and symptoms of infants, there are fewer than 1,000 patients in the [[United States]] with the confirmed diagnosis of PCD. | ||
===Case-fatality rate/Mortality rate=== | ===Case-fatality rate/Mortality rate=== | ||
The [[mortality rate]] is difficult to interpret in PCD. | |||
151 PCD adults were selected in a recent [[retrospective study]], median age of 25 years longitudinally followed for 7 years. [[Incidence]] were concluded with all-cause [[mortality]] of 5% and respiratory related mortality of 3.3%. <ref>{{cite journal |vauthors=Shah A, Shoemark A, MacNeill SJ, Bhaludin B, Rogers A, Bilton D, Hansell DM, Wilson R, Loebinger MR |title=A longitudinal study characterising a large adult primary ciliary dyskinesia population |journal=Eur Respir J |volume=48 |issue=2 |pages=441–50 |date=August 2016 |pmid=27288033 |doi=10.1183/13993003.00209-2016 |url=}}</ref> | |||
===Age=== | ===Age=== | ||
Delay in diagnosis is commonly seen in PCD in spite of symptoms in early life. Median age at [[diagnosis]] was 5.3 yrs (IQR 1.2–8.2, range 0–19 yrs), lower in children with [[situs inversus]] compared to those without (3.5 ''versus'' 5.8 yrs; p<0.001<ref>{{cite web |url=https://erj.ersjournals.com/content/36/6/1248 |title=Factors influencing age at diagnosis of primary ciliary dyskinesia in European children | European Respiratory Society |format= |work= |accessdate=}}</ref> | |||
The unexplained [[respiratory distress]], [[rhinitis]] and [[situs inversus]] makes early referral for PCD testing mandatory.<ref>{{cite journal |vauthors=Coren ME, Meeks M, Morrison I, Buchdahl RM, Bush A |title=Primary ciliary dyskinesia: age at diagnosis and symptom history |journal=Acta Paediatr |volume=91 |issue=6 |pages=667–9 |date=2002 |pmid=12162599 |doi=10.1080/080352502760069089 |url=}}</ref> | |||
===Race=== | ===Race=== | ||
*There is no racial predilection to | *There is no racial predilection to PCD | ||
===Gender=== | ===Gender=== | ||
* | *PCD affects [[men]] and [[women]] equally. | ||
===Region=== | ===Region=== | ||
The majority of PCD cases are reported in ethnic groups with high rates of consanguinity, such as the British Asian population, Amish communities in US and the Voldendam population in Netherlands.<ref>{{cite journal |vauthors=Damseh N, Quercia N, Rumman N, Dell SD, Kim RH |title=Primary ciliary dyskinesia: mechanisms and management |journal=Appl Clin Genet |volume=10 |issue= |pages=67–74 |date=2017 |pmid=29033599 |pmc=5614735 |doi=10.2147/TACG.S127129 |url=}}</ref> | |||
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Latest revision as of 06:33, 6 September 2021
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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 (PCD) is generally documented as etiology of bronchiectasis not only in children or young adults but also in older patients. It is challenging to demonstrate the prevalence of PCD in diverse population with estimates varying between one in 4000 to one in 40,000. PCD is linked with the high levels of consanguinity. Clinical suspicion of PCD is high in these communities, chronic cough and nasal symptoms should rise concern for prompt diagnostic testing.
Epidemiology and Demographics
Incidence
- The estimated incidence of PCD is approximately 1 per 15,000 births
Prevalence
- PCD is a rare disorder with an estimated prevalence of 1:10,000[1]. The prevalence of PCD is difficult to determine, primarily because of limitations in diagnostic methods that focus on testing ciliary ultrastructure and function, Because of a lack of appreciation of the cardinal signs and symptoms of infants, there are fewer than 1,000 patients in the United States with the confirmed diagnosis of PCD.
Case-fatality rate/Mortality rate
The mortality rate is difficult to interpret in PCD.
151 PCD adults were selected in a recent retrospective study, median age of 25 years longitudinally followed for 7 years. Incidence were concluded with all-cause mortality of 5% and respiratory related mortality of 3.3%. [2]
Age
Delay in diagnosis is commonly seen in PCD in spite of symptoms in early life. Median age at diagnosis was 5.3 yrs (IQR 1.2–8.2, range 0–19 yrs), lower in children with situs inversus compared to those without (3.5 versus 5.8 yrs; p<0.001[3]
The unexplained respiratory distress, rhinitis and situs inversus makes early referral for PCD testing mandatory.[4]
Race
- There is no racial predilection to PCD
Gender
Region
The majority of PCD cases are reported in ethnic groups with high rates of consanguinity, such as the British Asian population, Amish communities in US and the Voldendam population in Netherlands.[5]
References
- ↑ "Diagnosis of primary ciliary dyskinesia: summary of the ERS Task Force report | European Respiratory Society".
- ↑ Shah A, Shoemark A, MacNeill SJ, Bhaludin B, Rogers A, Bilton D, Hansell DM, Wilson R, Loebinger MR (August 2016). "A longitudinal study characterising a large adult primary ciliary dyskinesia population". Eur Respir J. 48 (2): 441–50. doi:10.1183/13993003.00209-2016. PMID 27288033.
- ↑ "Factors influencing age at diagnosis of primary ciliary dyskinesia in European children | European Respiratory Society".
- ↑ Coren ME, Meeks M, Morrison I, Buchdahl RM, Bush A (2002). "Primary ciliary dyskinesia: age at diagnosis and symptom history". Acta Paediatr. 91 (6): 667–9. doi:10.1080/080352502760069089. PMID 12162599.
- ↑ Damseh N, Quercia N, Rumman N, Dell SD, Kim RH (2017). "Primary ciliary dyskinesia: mechanisms and management". Appl Clin Genet. 10: 67–74. doi:10.2147/TACG.S127129. PMC 5614735. PMID 29033599.