Abstract
Primary ciliary dyskinesia (PCD) is an inherited cause of bronchiectasis. The estimated
PCD prevalence in children with bronchiectasis is up to 26% and in adults with bronchiectasis
is 1 to 13%. Due to dysfunction of the multiple motile cilia of the respiratory tract
patients suffer from poor mucociliary clearance. Clinical manifestations are heterogeneous;
however, a typical patient presents with chronic productive cough and rhinosinusitis
from early life. Other symptoms reflect the multiple roles of motile cilia in other
organs and can include otitis media and hearing loss, infertility, situs inversus,
complex congenital heart disease, and more rarely other syndromic features such as
hydrocephalus and retinitis pigmentosa. Awareness, identification, and diagnosis of
a patient with PCD are important for multidisciplinary care and genetic counseling.
Diagnosis can be pursued through a multitest pathway which includes the measurement
of nasal nitric oxide, sampling the nasal epithelium to assess ciliary function and
structure, and genotyping. Diagnosis is confirmed by the identification of a hallmark
ultrastructural defect or pathogenic mutations in one of > 45 PCD causing genes. When
a diagnosis is established management is centered around improving mucociliary clearance
through physiotherapy and treatment of infection with antibiotics. The first international
randomized controlled trial in PCD has recently been conducted showing azithromycin
is effective in reducing exacerbations. It is likely that evidence-based PCD-specific
management guidelines and therapies will be developed in the near future. This article
examines prevalence, clinical features, diagnosis, and management of PCD highlighting
recent advances in basic science and clinical care.
Keywords
cilia - bronchictasis - diagnosis - management
