Primary ciliary dyskinesia (PCD) is a rare inherited condition affecting motile cilia and leading to organ laterality defects, recurrent sino-pulmonary infections, bronchiectasis, and severe lung disease. Research has revealed variability in clinical presentations, ranging from mild to more severe phenotypes (PMID:34361034).
Primary ciliary dyskinesia (PCD) affects 1 in every 15,000–30,000 live births and arises from ultrastructural defects that cause dysmotility of motile cilia in the respiratory epithelia, brain ependyma, embryonic node and oviduct, and of sperm flagella. Ineffective airway mucociliary clearance usually manifests within the first year of life with recurrent infections, sinusitis, rhinitis and otitis media, causing a chronic respiratory condition and progressing to permanent lung damage (bronchiectasis). Half of all individuals with PCD have laterality defects that reflect randomized left-right organogenesis as a result of embryonic nodal cilia dysfunction, usually situs inversus totalis (Kartagener syndrome), with a rarer incidence of complex heterotaxy defects that are often associated with congenital heart disease. Subfertility in individuals with PCD arises from dysmotile sperm flagella and oviduct cilia, and hydrocephalus occasionally arises from reduced cerebrospinal fluid flow caused by ependymal cilia dysmotility in these individuals (PMID:22387996).