Overlap
I spoke with Johnny C last night about putting a patient survey together looking for clues to other cilia-related phenomenen in PCD–particularly cystic lesions in the liver, pancreas and kidneys, splenic abnormalities, congenital heart defects and eye problems. There is increasing evidence of the importance of ciliary function in skeletal development, as well. The problem is that some of these issues in patients are “sub-clinical” and may not rise to the level of being diagnosed, even though they may be compounding the respiratory problems faced in PCD. Coming up with a survey that is easy enough for patients to participate in, yet provides enough valid information may be difficult. Asplenia is of particular concern because it does happen with PCD (very rarely, however) and if it is missed, can lead to sudden overwhelming infection and even death. I think there is valid reason to do thoracic and abdominal evaluations on all people who carry a diagnosis of PCD, but doubt that will become standard for many years.
Back to the survey–there are also privacy concerns. We would want to make the information available to researchers, but won’t have individual details to match a survey to a particular person. Not sure how we will get around these issues, but it is information that really needs to be collected somewhere and we could at least make a good start. More on this as we get closer to having a completed survey.