Primary ciliary dyskinesia, or PCD, is a rare genetic disease that can result in infertility, but a new study has found that the majority of people with PCD started out in life with respiratory distress.
PCD can be misdiagnosed as more common conditions like asthma, allergies, and cystic fibrosis. While there are numerous other distressing symptoms of PCD -- recurrent sinus and ear infections that don't respond to treatment, persistent wheezing and cough -- fertility becomes an issue because of one of the disease's hallmarks, cilia that don't do their job. Cilia are tiny hairs that exist throughout our innards and are charged with the duty of moving things along -- mucus, and with it, bacteria and other bad things. Cilia also exist in the reproductive system. PCD is sometimes called Kartagener Syndrome, immotile cilia syndrome, and ciliary aplasia.
In addition to stuck cilia, PCD patients have reversed internal organs.
The study authors found retrospective evidence that 80 percent of PCD patients have a history of respiratory distress as newborns. They therefore encourage the exploration of possible PCD diagnosis for patients who are term (born at or around 40 weeks), have respiratory distress or persistent hypoxemia (low blood oxygen), and particularly if the patient is already known to have reversed internal organs.