Primary ciliary dyskinesia epidemiology and demographics
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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.