The “Ciliopathies”

Background (you can skip this part):

Cilia are little hair-like projections on many different cell types.   Their function is extremely complex.  Our understanding of their function is still evolving.  But we do know that normal function of cilia is crucial for normal development of many organs including kidney, brain, eye, and the cardiovascular system.

After development, normal cilia function is crucial for normal function of several organ systems, especially the lining of the respiratory tract – the respiratory epithelium.  This epithelium lines the larger passages of the lower airway, and the upper airway including the ears, Eustachian tubes, nose, and sinuses.  Here, cilia function to sweep a thin layer of secretions out of the airway generally toward the pharynx, or throat.  These secretions, containing various microorganisms and airborne pollutants, are swallowed and the stomach acid generally kills them.

Primary Ciliary Dyskinesia (PCD):

PCD means to be born with an abnormality that prevents cilia from working normally.  Although there is great excitement over recent discovery of some of the genes that are involved in “primary ciliary dyskinesia,” this is a relatively rare disease, with an incidence estimated to range from 1 in 15,000 to 1 in 60,000.  Classic symptoms include chronic otitis, chronic sinusitis, and chronic bronchitis with pneumonias.  Visit the PCD Foundation site here: http://www.pcdfoundation.org/

Acquired Ciliary Dyskinesia:

Ciliated Respiratory Epithelium: pink blobs are pollen, gray specs are pollution particles, sitting in orange cilia

Much more common is secondary, or acquired, ciliary dyskinesia.  This is a condition where the cilia don’t function normally due to some insult – a viral infection for example, or some irritant such as tobacco smoke or other pollutants, or even the inflammation caused by allergens – things we are allergic to, like pollen.  The bottom line is that healthy sinuses, ears, and lungs, all require normal muco-ciliary clearance: normally functioning cilia, and normal mucus with the proper viscosity and proper amount.

So, treat your cilia well … be excellent to them:

So, keep ‘em safe from toxins and pollutants.

Do everything you can to keep the air you breathe as clean as possible. Read more here.

Also, Keep ‘em Moist:

Even without being exposed to one of the above insults cilia may be unhappy. They are happiest in 100% humidity.  If they become too dry they stop working normally.  Use a humidifier at night if you live in a dry climate (see earlier post on humidifiers).  Use a simple saline spray during the day (these are not addicting, unlike some nose sprays).  Use saline sinus rinses daily for happiest cilia (see earlier posts on sinus rinses, listed below).

The Result:

If the cilia do not sweep away mucus with particulate matter including virus particles or bacteria or mold, the result can be chronic rhinitis and sinusitis – chronic rhinosinusitis, or CRS.  Injury of the respiratory ciliary mechanism is just one of the ways that exposure to toxins and irritants contribute to asthma exacerbations and chronic rhinosinusitis.

Nose Pudding:

That is, if the cilia aren’t working normally, secretions containing all those microorganisms, pollutants, allergens, and general irritants, simply stagnate.  They accumulate.  The result is that your child always seems to have thick green “pudding” running from their nose.

Whereas some parents, and even some physicians, dismiss this as just a “snotty-nosed kid,” this is not normal.  It can simply be a viral URI or “cold”.  But a “cold” that lasts for more than 2 weeks is a sign of rhinosinusitis.  That foul stuff is a common trigger for reactive airway, or asthma.  If YOUR child has green “nose-pudding” for more than 2 weeks, if they always seem to have it, get them to a boogor doctor.

Bottom line: if your cilia don’t work normally, the result is not pretty.

What to do?

How can you use this information to help prevent these recurrences in your child?  While you are waiting to see a doctor, think about the causes of unhappy cilia.   Do daily saline sinus rinses – this will help rinse away pollutants, allergens and other irritants, viruses, bacteria, and mold.

To download this article as a free PDF file go to the boogor-doctor’s library.

Check these earlier posts – they will help you reduce exposure to toxins and pollutants, and reduce triggers for allergic rhinitis.

Resources (This Blog):

You might find the tips in those posts helpful, but NOTE:  there is NO QUICK CURE for the child with chronic nose pudding (CRS).  If you are fortunate you will make your way to a pediatric boogor doctor (ENT – Ear, Nose & Throat, Otolaryngologist) who uses an integrative approach to controlling and preventing CRS for your child.

Question for you:  If you have a child with PCD, how are you optimizing their airway?

Please click on “Leave a Reply” below, leave a comment to let us know so we can all learn, and to ask questions.

Thanks for visiting, and see you here again.  I appreciate your comments and questions.  Keep ‘em coming.  Please, “be excellent to one another.”

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Stay informed, stay healthy.

Best of health and success to you and your families.

Until next time, remember … you can pick your friends, and you can pick your nose, but you can’t pick your friend’s nose (unless you’re a boogor doctor :~D)

Comments

  1. Dr. Faust, thank you for such a clear explanation. My son has PCD, and we are already doing daily saline rinses. Are there any other things that we can do to help too. Thanks, Jenn

    • Russell A. Faust, PhD, MD says:

      Dear Jenn,
      Thanks so much for visiting. Glad to hear that you are already using nasal saline rinses to help control your son’s PCD symptoms – there is not a better way to optimize his health. I appreciate your question about additional things that you can do to help. This is a frequent question by parents of children with PCD that I see in clinic. Unfortunately, the best that we can do is monitor these children closely for signs of exacerbation – bronchitis, otitis or mastoiditis, rhinitis and sinusitis. Exacerbations usually need to be aggressively and quickly treated with antibiotics – this is one of the few groups of patients where I support early use of antibiotics. Otherwise, keep up daily rinses. Saline nasal rinses will help de-congest, help rinse away allergens, viruses, bacteria, molds, and pollutants. This helps keep the sinuses open and healthy, helps keep the eustachian tubes open and the ears healthy, and helps keep upper airway infections from triggering lower airway problems. Thanks again for visiting, and see you here again soon, RF

      • I have SCD and i’ve had it for over 4 or 5 years now. Last spring I had pneumonia and was hospitalized for 2 days. I went back to the hospital on Christmas break for similar symptoms. They perscribed me Leviquin for 21 days. I finished it and as soon as I was done, i got sick again two days after. I have a low grade fever, sinus issues, ans a horrible cough but its not as full of mucus as usual. I’m really tired of not being able to get better. Do you recommend me going on antibiotics for another 21 day? I am however having terrble joint pain as well, and I think it may be due to the antibiotics

        • Russell A. Faust, PhD, MD says:

          I’m sorry, Gwen, but without having a doctor-patient relationship with you (meaning without me knowing your complete medical history, as well as knowing your exam and medical test data), there is no way for me to form a useful opinion. My best advice: seek another opinion, and yet another if necessary. But you must find a physician that can answer your questions and provide understandable guidance that you are comfortable with. Note: I have had excellent results with doctors of naturopathy (ND), as they use a more “integrative” and “big picture” approach, instead of being experts in a very narrow corner. Here is link that you might find useful: https://naturopaths.healthprofs.com/cam/state/Connecticut.html
          Thank you for visiting and sharing. Best success.

  2. My daughter has PCD. We do sinuses rinses, air clearances and nebulizers to help keep her clear. My question is; we are moving to Denver, Co and are concerned with the dry climate and how it may effected her? How does will the dryness effect her?

    • Russell A. Faust, PhD, MD says:

      Hi Jennifer,
      Sorry to hear about the diagnosis of PCD – it can be a real challenge. To answer your question: I have no idea. I have always practiced medicine in the Midwest and East / Southeast, and I have no idea what to expect in the desert Southwest. You may be pleasantly surprised (I hope so). No matter what, I recommend using one of the over-the-counter nasal saline sprays, preferably one with a high concentration of Xylitol in it. My personal favorite is by Xlear.com, and I use their small spray bottle myself. I carry one with me at all times, or at least try to, and use it every hour if possible. Not only does that optimize nasal hygiene – a goal for your daughter – but the Xylitol helps kill some bad bugs (“pathogens”) and also prevents most bacteria from adhering to the nasal lining. That is a HUGE benefit, because if they can’t stick, they can’t infect.
      I’m sure you’ll love the Denver area. I miss the mountains of the Pacific Northwest.
      Please visit again once you’re out there, let us know the answer – does the high elevation and dry air positively or negatively affect PCD, or not at all?
      Thanks again for visiting, and for taking time to share!
      RF (boogs)

  3. When I originally commented I clicked the “Notify me when new comments are added” checkbox and now each time
    a comment is added I get four e-mails with the same comment.

    Is there any way you can remove me from that service?
    Thank you!

    • Russell A. Faust, PhD, MD says:

      My apologies. I have modified the “comments” function, so hoping that will stop. Thanks for the heads-up.

  4. Thank you Dr Faust for the excellent information you provide. I have a question slightly off your path, but I hope you might be able to point me in a helpful direction.
    I do not have PCD, and I’m 65 years old. But I do have inability to clear my nose because of an almost total loss of nasal cilia, destroyed by unshielded Xray treatment for otitis media back in the 1950s. It’s causing increasing sleep apnea as my nose closes up during the night.
    Do you have any suggestions for doctors working on such problems, and/or suggestions for how to deal with the problem? Standard CPAP just makes the apnea worse, as it dries the nose even faster.
    PS to a previous post about Denver, I find the thin dry air makes it so hard to breath that I even avoid flights that change planes at Denver airport.
    Thanks in advance for any help you can provide.

    • Russell A. Faust, PhD, MD says:

      Hi Sherry,
      Thank you for sharing.
      This is a VERY challenging problem, with very little research to guide treatment. Dr. Eugene Kern, formerly of the Mayo Clinic in Minnesota (where I trained with him), was one of the pioneers to help eliminate the aggressive surgeries that were contributing to this problem during the 1960’s through 1990’s. Note that what you describe is “empty nose syndrome,” and the description on wikipedia provides the best review of treatment options. It’s hard to beat daily nasal saline rinses. I’m sorry, but as a Pediatric Otolaryngology surgeon, I have little experience with this diagnosis, aside from my limited time with Dr. Kern back in the 1990’s.
      Please keep me updated on how you manage – we can all learn from your experience! Thanks.

  5. Hello Dr. Faust. The information you have provided on this website is wonderful. I just found out that my 5 year old daughter has Situs Inversus Totalis, as well as PCD. She has a constant runny nose, as well as recurrent ear infections. I am looking to move her to Seattle or San Francisco. I am finding little information in regard to the best climate for her PCD. You mentioned in an above post that you miss the Pacific Northwest. Perhaps you have knowledge of Seattle’s weather and how it can impact children with PCD? Thank you for your time.

    • Russell A. Faust, PhD, MD says:

      Hi Danelle,
      Thank you for your kind comments.
      I don’t think that the climate will be sufficiently different to have an impact on your daughter’s PCD. Of course, as you are finding, there is little information available, and that is simply my opinion. On the bright side, you may find that the increased overall ambient humidity in Seattle is beneficial for her. The pediatric ENT docs at Seattle Children’s are some of the very best in the world (tell them I said so), so she will be in good hands there – better than most places!
      Thank you so much for the feedback, and please do stay in touch.

  6. Dr. Russell A. Faust,

    I am from India. My daughter is Dextocardia and situs inversus . She was an early term baby (37 weeks – C Section) and was diagnosed with congenital pneumonia since her oxygen saturation levels were lower than normal, She was treated in the hospital for about 5 days and then discharged as her saturation levels returned to normal. Ever since we discharged her, she has had a chronic productive cough every day but not an extent that it needs hospitalization. We had to take numerous X-rays but none of them showed sign of major infections.
    Her mucus discharge is most of the time whitish but sometimes mild yellowish. Even with her cough she seems to be normal child playing kicking always. But we are clearly able to feel her chest wet and mucousy when we hold her and also rattle in her chest when she is trying to bring mucous out.
    She has a severe eye discharge every single morning, making her unable to open her eyes and recurrent sore throats every day.
    Her birth weight was 2.42Kgs and she is now 5.4Kgs at 6 months. We are of the constant fear that she might have PCD but we don’t have good test lab in India.
    Could you please share your thoughts on the possibilities of our child to have PCD?
    Thank you.

    • Russell A. Faust, PhD, MD says:

      Hi Viggi,

      The real question is this: what would you do differently if you could have the PCD test? The honest answer is … nothing.

      Why? Because we don’t have a cure for PCD. And, given her history, she is likely to have PCD.

      So: simply assume that your daughter DOES have pcd and treat her accordingly – daily saline nasal rinses; frequent nasal saline sprays; include Xylitol in that saline if possible; prompt evaluation by her doctor when you suspect a respiratory infection – cough, foul drainage, fevers, etc. All the things that you find on this blog site.

      I wish you the very best success and health for you and your entire family. Please note that every case of PCD is unique, and will experience troubles to a different extent. I have cared for children in my own medical practice with situs inversus and presumed PCD who were rarely ill; others who seemed to always be struggling.

      May your struggles be trivial, and may you always prevail :)

  7. Patrick Hayes says:

    Dr. Faust, thanks for being so excellent to everyone with your great blog. My question is about sinus trouble related to CPAP therapy for sleep apnea. Do you know does CPAP (forced air to keep airway open at night) affect the cilia negatively? Does it do anything to cause sinus trouble? (Because I never had sinus trouble before using CPAP, but the doctors say it is important to keep using it for other health reasons.)

    • Russell A. Faust, PhD, MD says:

      Patrick,

      Thank you for visiting, and for sharing. You raise a very challenging issue. I’ll start with the bottom line: I simply don’t know. As a pediatric specialist, it is rare for my patients to be on CPAP. Not unheard of, but rare. You will find that adult ENT’s and Pulmonologists have much greater experience in this area.

      Having said that, I’m happy to share my opinion: do whatever it takes to ventilate while you’re sleeping! Use the CPAP, and manage any cilia or sinus irritation using the methods outlined here on this med-education blog. I can speculate that having air artificially forced through your upper airway under pressure might make your cilia unhappy; but not as unhappy as you will be if you develop the severe complications of obstructive sleep apnea.

      Thank you for your kind comments, Patrick. And best success!

  8. Dr. Faust,
    Thank you so much for your time. My son has PCD. He was diagnosed at 1 year after multiple admissions and is now 2 years old. We currently live in Cincinnati, OH but may have the option of moving to the Santa Cruz, CA area. Though 7 miles from a great Children’s Hospital here, we would be 75 miles from Stanford, a PCD center. My question is somewhat similar to an earlier one posted: do you think the salt air, more temperate climate and better air quality would make this a better place to live for our son and his PCD or have you found that location doesn’t really matter…just tailored attentive treatment to the disease and it’s complications? Honestly, we would move across the country in a heart beat to make his life easier, healthier. But I’d like to make the most informed decision and I can find very little definitive research done in this area.

    Thank you so much!

    Karey

    • Russell A. Faust, PhD, MD says:

      Hi Karey,

      This is a great question, but I simply don’t have the answer. But since you did remind me of the Stanford PCD Center, I suggest that you call them and explain your situation. If anyone can answer your question, they can.

      Thanks so much for sharing this here. PLEASE keep me updated on what you find out, and generally on how your boy is doing.

  9. Kathy Bechtel says:

    Dr. Faust:

    Wow! At last someone with some insight on PCD! Lots of good info, especially the news about Xylitol! I will be looking for it!

    I am a 63 yr old woman. I was born with a congenital heart defect which was corrected by major surgery when I was about 5, around 1957. Afterwards, I contracted the German measles, and my parents were told that my bronchial cilia had been destroyed as a result. I have had bronchitis, pneumonia, sinusitis, asthma, etc. etc. all of my life since then. I even had a lobectomy, or pneumonectomy, at the age of 12 due to lung collapse. My quality of life has been sporatic, to say the least! However, there is not a pulmonary dr. in this area of West Texas where I live that has even heard of PCD, much less secondary PCD. Nor do any of them know how to test for it. I am pretty sure that my cilia have been permanently damaged or are completely gone. One pulmonologist that I went to told me that he felt the “cilia thing was just a red herring, since cilia grow back!”

    My question is: do they grow back? Could the German measles have destroyed them permanently? I am currently on sublingual allergy drops which seem to be helping. However, if I get the slightest cold, it still seems to “slip” down my bronchial tubes quickly & I still get very, very sick. Any advice on where I can get help would be appreciated!

    • Russell A. Faust, PhD, MD says:

      Kathy:
      Wow is right! Interesting story. In my opinion, the answer is yes, measles could have resulted in secondary ciliary dyskinesia, possibly with permanent destruction of cilia. It is more likely that your cilia are super-sensitive to inflammatory changes that result from any virus, “head cold,” allergy, etc. Regardless, the solution is the same: you treat yourself as if you have primary, permanent ciliary dyskinesia! That means remaining vigilant about your health: eat right; take your vitamins; exercise; wash your hands; use hand sanitizer (“hanitizer,” according to my 4-year-old). And it means doing daily saline nasal rinses to reduce your risk of infections, and to rinse away allergens or irritants. As mentioned, adding Xylitol to your rinses will help, as it is a natural antimicrobial.
      Thanks so much for sharing. Very interesting (it’s never good to have something that would be considered interesting by a physician-scientist-geek :))

      • Kathy Bechtel says:

        Thanks for this speedy reply! Now, my next question is: what is the best nasal wash out there & should I get one that already contains Xylitol? If I have to “add” Xylitol to my wash, just purchase the crystals, drops or what form? Are homemade washes better than the OTC seen at drugstores?

        Also, any idea of physicians in West Texas area that are educated in PCD or any research available or DNA test labs? So far, since the 1950’s original dx of cilia being destroyed, my condition has gone undiagnosed. Local physicians are useless in this respect.

        Yes, my case is unique, but I will not stop trying to figure me out! Thanks again!

        • Russell A. Faust, PhD, MD says:

          Ironic that it has taken me nearly a month to reply, after your compliment of “speedy reply.”
          In my not-so-humble-opinion, the Nasopure products are the “best,” although I don’t think that they offer pre-made saline packets that contain Xylitol yet. I have used the packets available from the Xlear company, but I routinely make my own by simply buying Xylitol in bulk (you can find it here on our Amazon SHOP) and adding a teaspoon or two to the Nasopure bottle along with the Nasopure packet contents. Note: I / we have no financial or other arrangements with Nasopure or Dr. Hanna. I just support them as an American-grown, “mom-and-pop” (literally) business that is helping many people.

          Yes, most physicians are ignorant when it comes to PCD. The best will be at academic research hospitals like U Penn, OSU (Ohio State), Hopkins, and the like.

          Regardless, the fact remains that there are no cures, at least until the gene therapy is perfected. That means you simply need to continue managing your daily habits so that you minimize your symptoms, and minimize your infectious flare-ups. Realize that you live with inflamed mucosa;and that chronic inflammation causes circulation of inflammatory cytokines: those cytokines inflame respiratory lining that is distant from the primary point of inflammation. It’s all “cut from the same cloth.” Your best plan includes regular saline rinses, as you already know.

          Thank you for your kind comments and for sharing. Best success, and please keep me updated!

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