Why, when and how to investigate primary ciliary dyskinesia in adult patients with bronchiectasis

Abstract

Bronchiectasis represents the final pathway of several infectious, genetic, immunologic or allergic disorders. Accurate and prompt identification of the underlying cause is a key recommendation of several international guidelines, in order to tailor treatment appropriately. Primary ciliary dyskinesia (PCD) is a genetic cause of bronchiectasis in which failure of motile cilia leads to poor mucociliary clearance. Due to poor ciliary function in other organs, individuals can suffer from chronic rhinosinusitis, otitis media and infertility. This paper explores the current literature describing why, when and how to investigate PCD in adult patients with bronchiectasis. We describe the main PCD diagnostic tests and compare the two international PCD diagnostic guidelines. The expensive multi-test diagnostic approach requiring a high level of expertise and specialist equipment, make the multifaceted PCD diagnostic pathway complex. Therefore, the risk of late or missed diagnosis is high and has clinical and research implications. Defining the number of patients with bronchiectasis due to PCD is complex. To date, few studies outlining the aetiology of adult patients with bronchiectasis conduct screening tests for PCD, but they do differ in their diagnostic approach. Comparison of these studies reveals an estimated PCD prevalence of 1–13% in adults with bronchiectasis and describe patients as younger than their counterparts with moderate impairment of lung function and higher rates of chronic infection with Pseudomonas aeruginosa. Diagnosing PCD has clinical, socioeconomic and psychological implications, which affect patients’ life, including the possibility to have a specific and multidisciplinary team approach in a PCD referral centre, as well as a genetic and fertility counselling and special legal aspects in some countries. To date no specific treatments for PCD have been approved, standardized diagnostic protocols for PCD and recent diagnostic guidelines will be helpful to accurately define a population on which planning RCT studies to evaluate efficacy, safety and accuracy of PCD specific treatments.

Evaluation of age at diagnosis and clinical findings of children with primary ciliary dyskinesia

“…Determining mutations by primary cell culture and genetic analysis can also be used in diagnosis 3 . PrImary CiliAry DyskinesiA Rule (PICADAR) was designed as a simple diagnostic clinical tool to predict the likelihood of having PCD 8,9 . It has seven predictive parameters in addition to persistent productive cough: full‐term gestation, neonatal chest symptoms, neonatal intensive care unit (NICU) admission, situs inversus, congenital heart defect, chronic rhinitis, and ear symptoms 8,9 .…”

“…3 PrImary CiliAry DyskinesiA Rule (PICADAR) was designed as a simple diagnostic clinical tool to predict the likelihood of having PCD. 8,9 It has seven predictive parameters in addition to persistent productive cough: full-term gestation, neonatal chest symptoms, neonatal intensive care unit (NICU) admission, situs inversus, congenital heart defect, chronic rhinitis, and ear symptoms. 8,9 The maximum PICADAR score is 14, and if the score is 5 or more, patients should be investigated for PCD, and if it is 10 or more, the probability of PCD is over 90%.…”

“…8,9 It has seven predictive parameters in addition to persistent productive cough: full-term gestation, neonatal chest symptoms, neonatal intensive care unit (NICU) admission, situs inversus, congenital heart defect, chronic rhinitis, and ear symptoms. 8,9 The maximum PICADAR score is 14, and if the score is 5 or more, patients should be investigated for PCD, and if it is 10 or more, the probability of PCD is over 90%. 9,10 Although PCD findings can occur in the newborn and early infancy, it may be diagnosed later in life.…”

Is bronchiectasis really a disease?

“…inhibition of epithelial sodium channel, ClinicalTrials.gov Identifier: NCT02871778) test therapeutic modalities in people with PCD and may lead to the first registered therapy for this indication. However, PCD is currently considered as one of the aetiologies of bronchiectasis and people with PCD-bronchiectasis are included in bronchiectasis registries and some clinical trials [90]. The convention that CF-bronchiectasis is considered a different entity from bronchiectasis, while PCD-bronchiectasis is not, is therefore methodologically inconsistent.…”

Uso del modo APRV en un paciente con discinesia ciliar primaria por distrés respiratorio agudo.

“…Disponible en: http://www.inspilip.gob.ec/ 8/13 Octubre del 2019 Para el diagnóstico clínico de DCP se ha validado una herramienta basada en datos clínicos denominada "PICADAR", en la que una puntuación superior a 5 ofrece una sensibilidad del 86 % y una especificidad del 73 %. (13) En cuanto al diagnóstico mediante imágenes, la radiografía de tórax puede presentarse con hiperinsuflación pulmonar bilateral junto a infiltrados peribronquiales y en la tomografía es muy frecuente encontrar bronquiectasias debidas a la infección e inflamación persistente de las vías respiratorias. Entre otros métodos de diagnóstico: la espirometría puede presentar un patrón obstructivo progresivo de la vía respiratoria, la microscopia electrónica de transmisión permite detectar defectos estructurales en el cilio (14) , cuya sensibilidad varía entre un 71 a 96 % y la especificidad es del 100 %.…”