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Rare Disease, Cause of Infertility, Often Misdiagnosed

Here's an example of how truly intertwined a person's fertility is with seemingly uninvolved other body functions: a rare genetic disease that shows up mostly in respiratory symptoms also results in infertility.

The disease, primary ciliary dyskinesia or PCD, is often misdiagnosed as asthma, allergies, or cystic fibrosis.

Many people already know that the gene that causes cystic fibrosis also indicates male infertility. But PCD is different. In addition to the culprit known as immotile cilia or ciliary aplasia, people with PCD have reversed internal organs.

Cilia are tiny hairlike structures that exist throughout the human body. Their job is to whisk away mucus, bacteria, and other things that our body needs to be rid of, and when the cilia are immotile, or stuck, inflammation and infection result.

Researchers have just published a study in which they found that 80 percent of people diagnosed with PCD had respiratory distress as newborns. So while the genetic disease itself happens only rarely, the study authors are encouraging a curious eye be turned toward babies who are born at term (that is, at or around 40 weeks gestation) and have respiratory distress or persistent hypoxemia (low blood oxygen). Similarly, patients who are known to have reversed organs along with chronic sinus and ear infections that don't respond to treatment and/or persistent wheezing and cough should be considered for possible PCD diagnosis.

While a PCD diagnosis could be disheartening, the fertility-related bonus would be learning early that infertility treatment should be considered when pregnancy is desired.

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This page contains a single entry from the blog posted on February 21, 2007 4:10 AM.

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