It is theorized that ciliary activity may play a part in determining the orientation of organs within the thoracic (chest) and abdominal cavities. If this is the case, one would expect random organ orientation in people with PCD, giving each embryo a 50% chance of "mirror-image" versus "normal" orientation. Evidence suggests that this is precisely the case, with approximately 50% of PCD patients presenting with situs inversus or other organ orientation issues (this subset of patients is said to have "Kartagener syndrome"). Other theories for organ orientation variations have been proposed, as well, but the exact cause is still unknown. Further research is required.
The liver produces a liquid called bile that is secreted by a system of ducts into the small intestine to aid in digestion. If the bile ducts fail to form or are not functioning properly, bile begins to collect in the liver causing damage and scarring. This condition is known as "biliary atresia."
Biliary atresia is a life-threatening condition that must be addressed by surgical intervention or by liver transplant.
Polysplenia literally means "many spleens" (or partial spleens called'splenules'). The spleen is important in clearing bacteria from the blood stream. An increased incidence of polysplenia (frequently associated with cardiac and liver defects) has been reported in patients with situs inversus. Typically, splenic function is preserved. In rare cases, however, surgical repair or removal of the spleen is required.
Congenital malformations of the heart are a rare consequence of PCD. Defects in the wall (septum) separating the atria or ventricles (chambers of the heart) have been reported, as well as multiple complex cardiac malformations.
There is evidence to suggest that hydrocephalus, especially the normal-pressure variant, may be more common in individuals with PCD (there are numerous published reports of hydrocephalus both in humans and in dogs with PCD).
Sterility and sub-fertility are common manifestations of PCD. Male sterility used to be considered universal, but there are reports of male PCD patients with normal reproductive capabilities. Females may experience sub-fertility and/or an increased risk for ectopic (tubal) pregnancy.