Primary Ciliary Dyskinesia

Primary ciliary dyskinesia (PCD), also known is Kartagener Syndrome, is an autosomal recessive (it only appears in individuals who have received two copies of an autosomal gene, one from each parent) disorder characterized by chronic upper and lower respiratory tract disease. Patients affected by PCD develop symptoms at birth or during the first few months of life. Most full-term neonates have respiratory distress with tachypnea (infant acute respiratory distress syndrome) and usually require supplemental oxygen for days and even weeks.

The common findings in infants and children are rhinitis (irritation and inflammation of the mucous membrane inside the nose) and wet coughs, which occur daily and appears soon after birth. Chronic bacterial infections of the lower airways is also common in PCD patitents. Chronic otitis media (infection of the ear) is common, sometimes with temporary or permanent hearing damage and reduced speech development.

Patients may also experience recurring sinus infections. Bronchiectasis, a disease in which there is permanent enlargement of parts of the airways of the lung, develops in an age-dependent manner, and is nearly universal in adults. Pectus excavatum (hollowed chest), scoliosis and digital clubbing (deformity of the finger or toe nails associated with a number of diseases related to the heart and lungs) are rarely reported. Majority of males with PCD are infertile, due to dysmotility of spermatozoa, although some of them have normal sperm motility. Reduced fertility or a history of ectopic pregnancies has been reported in affected women.

Situs inversus totalis, a mirror-image reversal of all visceral organs, is found in about half of individuals PCD. Heterotaxy (discordance of right and left patterns of normally asymmetric structures) is present in at least 10% and a subgroup of those have structural congenital heart disease. Pulmonary disease in PCD is related to defects in lung defense mechanisms due to...