V o lu m e 1 , Is su e 1 P C D Fo u n d a t io n O c t ob er , 20 0 3 PCD NEWS INSIDE THIS ISSUE: PULMONA RY H OST DE FENSE AND PCD Pulmonary Host De- 1 The main function of the lungs is to pro- delicate pulmonary structures. The debris- fense and PCD mote the exchange of life-sustaining gases, laden mucus blanket is propelled by ciliary PCD Family Education 2 primarily oxygen (O2) and carbon dioxide action toward the large airways where it Event (CO2). The most efficient way to accom- can be cleared by cough and either expec- plish this is by breathing in large quantities torated or swallowed. Mucus-secreting Scout Fundraiser 3 of oxygen from the atmosphere through glands within the epithelial layer continu- Know What you Grow! 3 the nose and mouth. Because outside air ally produce and release mucus into the is not sterile, the act of breathing intro- airway where it is absorbed into the mov- The Importance of Pa- 4 duces many contaminants into the sterile ing mucus stream. tient Groups airway, including bacteria, viruses, pollut- PCD Foundation Wish 5 ants and other irritants. To allow the lungs In PCD, structural or functional defects of List to perform their vital function in the face of the cilia interfere with MCC action. Con- this external bombardment, the respiratory taminants are allowed to collect on the sur- Respiratory Medica- 7 tract is protected by a marvelously bal- face of the airway, and additional mucus is tion Guide anced system known as “pulmonary host produced in response to the threat of air- Journal Watch 8 defense.” The system is complex, but re- way contamination. Excess mucus be- lies mainly on the interaction of three ma- comes a breeding ground for harmful or- Contact Information 8 jor components: mucociliary clearance ganisms, and soon a “vicious cycle” of mu- (MCC), effective cough, and adequate im- cus production, contamination and conse- mune defenses. quent inflammation and/or infection can set in. However, people with PCD have a Did You Know… Mucociliary Clearance very effective secondary defense system PCD (primary ciliary dyskinesia) is essen- that helps to prevent some exposure to ♦ Although the clinical syndrome tially a mucociliary clearance (MCC) disor- contaminants. It is called cough clear- now known as PCD was identi- der. MCC is a term that describes the in- ance. fied in the medical literature as teraction of respiratory cilia with the mucus far back as 1904 and was recog- nized as a distinct disease entity lining found in the upper and lower airways Cough Clearance in the 1950’s (Kartagener, et al), to move contaminants up and out of the When the MCC system is overwhelmed, it is still not recognized with an airways. MCC has traditionally been con- cough clearance is the second line of de- ICD-9 code—the standardized disease coding system used by sidered the main component of a function- fense. Effective cough relies on three insurance companies and man- ing pulmonary host defense system. phases. The first, an inspiratory "gasp," aged by the American Medical fills the lungs to total capacity. During the Association. The respiratory tract is lined with tissue second phase, sudden closure of the glot- ♦ The incidence of PCD is com- called ciliated epithelium. Cilia--motile tis (area at the back of the tongue) com- puted by doubling the estimated hair-like structures--protrude from this lin- bined with respiratory muscle activity helps incidence of Kartagener syn- ing. There are approximately to build pressure in the chest cavity. Re- drome in the general popula- tion. Since the diagnosis of 10,000,000,000 (ten billion!) cilia per laxation of the glottis precedes the third Kartagener syndrome is fre- square centimeter in the respiratory tract. (expulsive) phase of cough. The speed at quently missed, there is good They beat constantly and in a coordinated which the air flows through the airways is reason to suspect the incidence of PCD is much greater than fashion at a rate of 5-50 beats per second. elevated during the expulsive phase, and currently estimated. The cilia are submerged in a layer of liquid can reach up to three-fourths the speed of that facilitates their beating motion. A sound in the larger central airways! This ♦ Primary ciliary dyskinesia also appears as a clinical syndrome blanket of sticky mucus covers the cilia airflow helps to propel mucus toward the in animals including dogs and and liquid layer. This mucus blanket traps mouth to be either expectorated or swal- pigs. debris, preventing it from contaminating lowed. PULMONARY HOST DEFENSE (CONTINUED FROM PAGE 1) PCD results in The chronic, wet-sounding cough so famil- inflammation and/or infection can over- iar to PCD patients indicates that cough whelm the immune defenses and promote an serious exaggerated immune response, triggering the clearance is being recruited by the pulmo- impairment of nary host defense system. While cough “vicious cycle” of chronic respiratory disease. alone cannot prevent the system from be- mucociliary coming overwhelmed, it is an important Summary clearance— an contributor to overall lung health. The pulmonary host defense system is a bio- important Immune Defenses logical marvel. Complex and perfectly bal- anced, it is remarkably successful at keeping component of If a contaminant is able to get past the de- the respiratory system healthy and func- pulmonary host fenses provided by MCC and cough, micro- tional. For people with PCD, profound disrup- scopic cellular defenders found in airway tion of MCC may compromise their pulmo- defense mucus go to work to protect the system. nary host defense system. Airway clearance The role of airway defense molecules is therapy and mucus-thinning medications can very complex and not entirely understood. enhance the effectiveness of MCC by reduc- However, it is known that airway mucus ing the mucus load in the airways and pre- contains substances that inhibit the venting infection. growth of bacteria and cell bodies that trap and remove debris. An in-depth discussion of pulmonary host defense and mucociliary clearance by Michael Knowles, MD and Rich- Most people with PCD have normal airway ard Boucher, MD is available online in the Journal of Clinical Investigation: http://www.jci.org/cgi/content/ mucus composition. However, chronic full/109/5/571 PCD Foundation Family Education Event 2 First Annual PCD Event Held in Minneapolis, July 18-20, 2003 The first annual PCD Family Education On Saturday afternoon, Dr. Ann Auburn of the Event was held in Minneapolis July 18-20, Born Clinic presented alternative medicine 2003. Attendees from the United States options for PCD, based on her positive experi- and Canada had the opportunity to meet ence with PCD patient, Gina Manning. A vig- face-to-face and to discuss ciliary dysfunc- orous question and answer session with all tion and its consequences with leading ex- the speakers took up the rest of the Saturday perts in the field. program. The event opened with a Friday night recep- tion where the 60+ participants got to know Special Thanks each other in a relaxed atmosphere. The to our Family Saturday morning program focused mainly Event Sponsors on pulmonary concerns for people with PCD, and began with a research overview ● The Vest Foundation by Dr. Margaret Leigh from the University of North Carolina, Chapel Hill. Dr.’s John Car- ● Advanced Res- son (UNC) and Jeff Wine (Stanford) de- piratory, Inc. scribed ciliary function and the interaction ● Chiron Corpo- between mucus and cilia and explained the ration consequences of impaired mucociliary func- tion in PCD. Dr. Jordan Dunitz from the Uni- PCD Group Photo Sunday, July 20 versity of Minnesota Transplant Center talked about prevention of end-stage lung disease and gave encouraging statistics about lung transplant success. (continued on page 3) Scouts Raise Money for PCD by Dianne Horncastle Greece, NY Cub Scouts Give Good Will family pets joined the walk to help earn money for the PCD Foundation. Scouts from Pack 14 (Longridge, Barnard and 42 schools) took to the 390 trail to cele- Scout families earned $306 dollars through brate their health and to walk/ride 2 miles friend, family and neighbor sponsorship. to raise funds to benefit the health of oth- The money was used to pay airfare and ers. Mothers, fathers, grandparents and lodging for a PCD patient to attend the Fam- ily Education Event in Minneapolis last July. Bikes, scooters and smiles as the Scouts Scouts Al Molinari, Austin Collyer, Ryan Clark, Richie Ehrne, Aaron Malin, Joey Sturgis, Larry Winkie, Sean Grape, Jason begin their walk/ride PCD Family Education Event (continued from page 2) Sunday morning started with a talk by Dr. attendees actively participated. A highlight Laura Orvidas from the Mayo Clinic on treat- of this session was a demonstration by Toy ment options for chronic sinus and ear prob- and Timmery Adams of their at-home sinus lems associated with PCD. Dr. Jane and ear suctioning procedure using a Rain- 3 Braverman spoke about the history of cilia bow vacuum cleaner! and the discovery of ciliary dysfunction, fol- lowed by another question and answer ses- Tapes of the sessions are now available. sion with the remaining speakers. Please check the PCD Foundation website at www.pcdfoundation.org for more informa- The program wrapped up Sunday afternoon tion. We are working on dates for next with a group discussion on the psychosocial year’s event, which is tentatively planned issues faced by people with PCD. Dr. Leigh for Chapel Hill, North Carolina. Information moderated the discussion, and many will be posted to the website periodically.• K N O W W H AT Y O U G R O W ! Respiratory infection is an inevitable conse- ease in humans are called pathogens. For quence of compromised pulmonary host people with compromised immune defenses, defense. Knowing what grows in your per- typically harmless microbes can become sonal “microbe garden” can be very useful pathogenic. These bugs are referred to as in assessing disease progression, determin- opportunistic organisms and the resulting ing risk for opportunistic infection, and di- illnesses are called opportunistic infections. recting future treatment. Important terms For this discussion, we will focus primarily on defined in this article are in bold. bacteria that are implicated in common and opportunistic respiratory infections in PCD. The term microbe describes any of a group of microscopic or submicroscopic organisms When bacterial infection is suspected, a cul- (bacteria, viruses, fungi, etc.). Many mi- ture is done to identify the offending organ- crobes are harmless and/or life-sustaining. ism(s). Microbes that are capable of causing dis- (con’t on page 6) V o lu m e 1 , S p e cia l I n s e rt P C D Fo u n d a t io n O c t ob er , 20 0 3 SPECIAL INSERT THE IMPORTANCE OF PATIENT ORGANIZATIONS Welcome to the first edition of PCD News, a quar- were a mess, my marriage was in shambles, and ment of a charitable arm (The Vest Founda- terly publication for the primary ciliary dyskinesia we were at a complete loss as to what to try next tion) willing to sponsor a PCD group at Ad- (PCD) community. PCD News will be available in for this child. When we finally got the diagnosis, vanced Respiratory, and 3.) Meghan’s 18th an electronic format and can be sent to your it was such a relief to have a name for what was birthday, and the realization that her transition private e-mail address or accessed via the PCD wrong that it never occurred to me that there to adulthood and independence would allow Foundation website at www.pcdfoundation.org. would be no specific treatment and little agree- me to focus my healthcare advocacy energy We will also publish a limited number of hard ment about the prognosis. elsewhere. copies for regular mail distribution. Working as a medical research assistant and The UNC group (Dr.’s Peadar Noone, Margaret PCD is an umbrella term for inherited disorders writer for a cardiac surgery group at the time, I Leigh, Aruna Sunnuti, Michael Knowles, John of ciliary structure and/or function. This group of had access to medical journal articles at the Carson, Maimoona Zariwala, etc.) were instru- disorders includes Kartagener syndrome, immo- University of Minnesota. I immediately collected mental in helping to identify PCD opinion lead- tile cilia syndrome, and ciliary aplasia, among all the information I could find and created a ers and researchers around the world. Be- others. The clinical complications of PCD are PCD bibliography. However, much of the pub- cause of their exceptional reputation for respi- diverse, but chronic infections of the lungs, si- lished material was contradictory or speculative. ratory research, they brought immediate credi- nuses and ears are nearly universal. Infertility The clinical picture of PCD was far from clear. bility to PCD as a topic for genetic investiga- and subfertility are also common, as the result of Partly, this was because researchers and physi- tion. They were very supportive of the idea of impaired motility of reproductive structures cians dealing with PCD were working in isolated a patient group. (sperm tails and Fallopian tubes). Other less pockets. There was no central rallying point for common conditions have been reported in PCD, PCD research or treatment like the patient Armed with this support, I approached the including congenital heart defects, biliary atresia, groups that had so successfully focused cystic newly created Vest Foundation and asked for a/polysplenia, and hydrocephalus. Unfortu- fibrosis (CF) and alpha-1 (alpha 1) anti-trypsin some “seed” money to establish a patient nately, because of a lack of coordinated data deficiency research. I was more convinced than group for PCD patients. They were very recep- collection, the true clinical picture of PCD is not ever that we needed to organize. tive to the idea and offered to sponsor the entirely understood. group until we could get up and running on our Meghan racked up over 40 hospitalizations be- own. This allowed me to concentrate on or- Why a Patient Foundation? tween diagnosis and age 18. As a single parent ganization goals instead of being bogged down My name is Michele Manion and I am a PCD par- with two children, I was preoccupied with pre- in non-profit paperwork. ent (my 20-year-old daughter, Meghan, was diag- serving Meghan’s respiratory health while trying nosed at age 7). Based on the frustration my to earn a living. The goal of starting and main- Enlisting the volunteer effort of some friends family experienced in getting Meghan’s diagnosis taining a PCD patient group was still important to (Jane Braverman, PhD, and Meghan) we de- and finding appropriate treatment, I determined me, but I didn’t see how I could manage my cided to see what sort of public reaction the years ago that I wanted to be an active partici- “real” life and still push for an organization. PCD Foundation would receive by exhibiting at pant in the patient group(s) devoted to PCD. I Plus, I had few contacts with other PCD families the American Thoracic Society (ATS) confer- was anxious to talk to other parents about their and wasn’t sure how to coordinate the effort. ence in Atlanta in 2002. We designed a experiences, feeling at times that I didn’t even graphic, borrowed a booth, and prepared know how I should feel about this diagnosis. A Lucky Break some literature for distribution. Was it serious? Was it no big deal? I felt I got In the late 90s I went to work in the clinical mar- conflicting information from doctors, but the evi- keting division of Advanced Respiratory, Inc. (The Around this time, I was contacted by Lynn dence of my eyes was that this kid was sick— a Vest™ people). As it turned out, this position Ehrne who had gotten my name from UNC. I lot. On the other hand, when she wasn’t sick she perfectly suited my background and interest in told her about the ATS meeting, and she told seemed so well it was hard to know how seriously pulmonary health. I was “immersed” in mucus me about the e-group she moderated on Ya- to take the problem. I was devastated to find issues daily and I loved it! In this role, I commu- hoo. I was developing the clinical contacts that there was no group, and felt more isolated nicated daily with patients and professionals and she was instrumental in coordinating pa- than ever. representing a variety of disease states, includ- tient communication. It was clear that by com- ing hundreds of PCD patients. Additionally, I had bining efforts we could move things forward. As with all projects, the notion that maybe I the opportunity to develop relationships with Plus, Lynn was the group “cheerleader” who should just go ahead and start a patient group organizers from other patient groups and to get had absolute faith in our ability to succeed. developed over time. Eventually my frustration at their advice. I also had the opportunity to attend the guesswork involved in treating PCD over- major respiratory conferences and learned a Lynn was excited about our ATS debut. I was came my intimidation about not knowing how to great deal about pulmonary disease. Without excited, but also nervous. What if none of create a “foundation.” Clearly research and the exception the other non-profit groups agreed these physicians or researchers cared about attention of the medical community were desper- that the first step was to identify the “opinion PCD? What if they thought the patient popula- ately needed. Experienced or not, we needed a leaders,” the physicians and researchers most tion was too small to bother with? I wondered dedicated patient group. involved in research on PCD, and to arrange a what would happen to our goals if crucial phy- meeting to garner their support. sician support were lacking. As it turned out, I Meghan-The Early Years needn’t have worried. The response was over- Meghan was 7 at the time of her diagnosis in Three factors emerged in 2001 that made me whelming! By the end of the event, we had 1990. By that time, we had run the gamut of feel it was time to get the ball rolling: 1.) The 270 contacts from interested physicians and specialists, false diagnoses, lengthy hospital success of the PCD research project at the Uni- researchers in 13 countries. The general sen- stays, and ineffective therapies. Our finances versity of North Carolina (UNC), 2.) The establish- timent was “what took you so long?” 4 Clearly it was time to organize a scientific meeting focused on PCD. I organization? Two reasons, 1.) the name PCD Organization was already contacted researchers, including Matthias Salathe from the University of taken, and 2.) one of our major goals is to raise funds to finance re- Miami. In addition to his ciliary research, Dr. Salathe organizes an inter- search projects. The name seems a little “lofty” when you consider that national group of researchers, The Mucus, Cilia, and Mucociliary Interac- the PCD Foundation is currently me sitting at my dining room table with tion Interest Group, which meets every two years. Dr. Salathe invited us an antiquated computer, trying to keep the cats out of the printer (I also to co-sponsor their upcoming meeting in November, 2002. With funding have a “mobile” office when I plug my phone into my car lighter). How- from The Vest Foundation, we had our first scientific symposium devoted ever, we will grow into our name, not because we should or because it to PCD.* would be nice, but because we have to. Here’s why: The goal of most scientific meetings is to assess the current state of re- There are three primary genetic lung diseases; CF, alpha-1, and PCD. search and to develop priorities and strategies for future research. The CF and alpha-1 are both well-organized and well-funded. The research Miami meeting allowed us to bring together the small international com- sponsored by these organizations has helped countless people with any munity of researchers who were collaborating with UNC in identifying number of disorders. PCD is unique in that it is an impairment of a ba- PCD genetics. The efforts of this group were hampered by a shortage of sic component of a system that is present in every human being, the funding and of “raw material” (patients with the disorder who could pro- pulmonary host defense system. Treatments derived from research vide genetic samples). The need for more research on nasal nitric oxide done in PCD can potentially benefit not only PCD patients and their fami- measurements, a promising screening tool for PCD, was also discussed. lies, but the millions of people affected by other respiratory diseases, as Another problem identified and addressed in Miami was the difficulty in well. The importance of this research is already appreciated by top pul- finding clinicians and pathologists willing to make the diagnosis, even monary experts. Our job is to spread the word, find the funds, and not when PCD is suspected. allow PCD to get lost in the world of “orphan” diseases. From this information, we began to brainstorm the idea of a PCD treat- PCD Foundation—The Future ment network, similar to the “Centers of Excellence” established by the Lack of basic operating funds is the single most critical threat to our CF community. The PCD network centers would be instrumental in devel- survival at the moment. With the change in our relationship with The oping standards of care for PCD and would serve as “diagnostic” centers Vest Foundation (due to a corporate merger), things like our toll-free for other physicians without access to the necessary resources. There is number, access to postage and printing supplies, and support for con- tremendous interest in this concept and it is still in development. As ferences is gone. Payments for web hosting, a PO Box, etc. are being usual, the funding required to establish this network is currently not avail- donated by individuals, but it is a hardship for some of the people in- able, but we (PCD Foundation, UNC folks, etc) are diligently trying to find volved. We need your ideas and help with fundraising! We are also the funds. working with a fund-development consultant (on a percentage of money raised basis) who has some good ideas for creating revenue. Please Patient Power remember that I am no more of an expert than any of you (and probably So we had gauged PCD interest at ATS, convened interested parties in less than some of you!) at making this work, so don’t hesitate to share Miami, and developed a preliminary strategy for improving PCD care. ideas, make suggestions, etc. If they are not implemented right away, Now we needed to get patient perspective and involvement. Several it’s most likely because we can’t afford to, not because they are not patients were already actively participating in PCD Foundation projects, appreciated! Together, we will make this happen! but we wanted to encourage everyone to feel a sense of ownership in the foundation. We started with the first annual PCD Family Education Event Michele (see article in newsletter) in Minneapolis. It was a wonderful chance to get to meet each other, share stories, and learn about PCD. The speak- *To give you an idea of the costs involved in conference appearances and meet- ers also helped to graphically represent the frustration experienced by ing sponsorship, the cost for us to attend ATS (even at the discounted non-profit physicians at the lack of PCD treatment information available to them. rate for booth space) and associated charges for staffing the booth, etc. was The most stunning example of this was a slide presented by Dr. Dunitz of $6,130. Our portion of the Miami meeting (airfare and lodging for participants— we were not able to afford to pay our speakers) was $23,000. For ATS (and sev- the University of Minnesota. The slide addressed the issue of existing eral other conferences), The Vest Foundation picked up the cost in its entirety. evidence physicians can turn to when determining appropriate treatment For the Miami meeting, we raised about $7,000 and the Vest Foundation picked for PCD patients. It was blank! up the rest. We are very grateful to The Vest Foundation for their generosity and for championing the cause of PCD. If you would like to send a thank you to the The PCD Foundation Today Board members, please let me know and I’ll forward their e-mail addresses. So why are we a “foundation,” a name that implies a money dispensing PCD Foundation Wish List Many of you have expressed a desire to help and have asked about spe- In-Kind Donations cific areas of need. This list will give you an idea of short and long term Non-cash gifts to charitable organizations are known as “in-kind” dona- needs (in addition, of course, to general operating funds). tions, and their value is tax-deductible. -Microsoft Access Software Volunteers -EndNote 5.0 software -Board Members: We are in the process of becoming an independent non- -Monitor for computer profit (501(c)(3)) organization. When this happens, we need to be gov- -Pop-up tabletop graphic display (for 10’ booth) erned by a Board of Directors (Vest Foundation Directors provide this gov- -File cabinet ernance now). Ideally, the board will be made up of individuals with busi- -Items for a “silent auction” event tentatively planned for this winter. ness, medical, marketing, legal and practical experience, and at least -Web design expertise some of them will be directly impacted by PCD (parents or patients). To -Cell phone and service satisfy NORD (National Organization for Rare Disorders) requirements, the board must be geographically diverse (cannot all be from the same area), Cash Donations cannot be paid, and must actively engage in fundraising efforts for the -Sponsor printing of PCD Foundation letterhead and envelopes (est. group. If you are interested, or know of anybody who might be, please let $250) me know right away. -Sponsor printing of PCD Newsletter (est. $500) -Booth Staff: There are several conferences coming up that we hope to -Sponsor PCD website ($40/month) attend, particularly ATS in Orlando, Florida this May. If you live in the area and would be available to help at the booth, that could save us a lot of If you are interested in any of these opportunities, please contact Lynn money in airfare and lodging. Ehrne at email@example.com. 5 K N O W W H AT Y O U G R O W ! ( C O N T I N U E D FROM PAGE 3) Pseudomonas aeruginosa is an A small sample of the suspect body fluid or results for the physician. While the smear re- example of an tissue is wiped on the surface of a growth me- sult will not identify the specific bug, it will opportunistic dium or agar that promotes rapid reproduc- identify the major bacterial family and whether bacterial organ- tion. Because bacteria are clear, a staining or not the specific organism is Gram-positive ism. P. aerugi- process is typically used for visual identifica- or negative. It will also quantify the bacterial nosa is found in tion. The Gram stain procedure is a common load or amount of organism found relative to abundance in first step in preparing for microscopic exami- the sample using a 1 - 4+ scale. A preliminary the environ- nation of cultured material. A sample from culture report may say something like “2+ ment, especially the culture medium is smeared on a slide and Gram-negative rods.” This tells the physician in wet areas heated to fix the bacteria. Crystal violet (blue) that the problem bug is one of the Gram- such as sinks stain is then applied to the slide and washed negative species in the family Bacilli, and that and drains. off with water and iodine after 60 seconds. the bacterial load is currently moderate. With However, infec- An alcohol solution is then rinsed over the this information, the physician can start appro- tion with P. slide, and a red counter-stain is applied. De- priate antibiotic treatment while waiting for aeruginosa is pending on the physical and chemical proper- the results of the final culture, which will posi- very rare in the ties of the outer membrane of the bacteria, tively identify the offending organism(s). general popula- either the blue or the red dye will adhere. If tion. the bacteria retain a blue tint they are called When a specific organism is identified, the lab Gram-positive. If they pick up the red tint, will assess antibiotic sensitivity. By subjecting they are Gram-negative. the infectious organism to antibiotics known to be effective in treatment, it is possible to Two major bacterial families of concern to target antibiotic therapy to the specific bug, PCD patients are Cocci (spherical bacteria) and to determine if the bug is a resistant and Bacilli (rod-shaped bacteria). When re- strain. The entire process is known as culture ferring to specific bacteria, it is customary to and sensitivities and it is standard practice in use both the genus and species names, itali- most laboratories. cizing both and capitalizing the genus (e.g. Staphylococcus aureus). Some labs abbrevi- There are currently no specific recommenda- ate by using just the first letter of the genus tions for frequency of sputum culture collec- 6 and the whole species name (e.g. S. aureus). tion in PCD patients. However, it is important It is important to identify both genus and spe- for all people with chronic lung disease to get cies because not all organisms in the Cocci sputum cultures at least at annual check-ups and Bacilli families are harmful to humans, and more frequently when ill. Routine cultures and because the presence of certain species can help to direct antibiotic therapy, deter- indicate opportunistic infection—a clue to look mine antibiotic resistance, and assess pro- for underlying disease. gression of disease. Keeping track of your cul- ture and sensitivity results will enable you to Within 24 hours of sample collection, most work with your physician for optimal results. labs will have smear (preliminary culture) The presence of Family Genus Species Gram -/+ Transmission Common Considered Op- infection with an Pathogen portunistic opportunistic Cocci Staphlyococcus aureus + Airborne yes yes organism is im- (spheres) portant because Streptococcus pyogenes + Airborne no no it may indicate significant un- pneumoniae + Airborne yes no derlying dis- ease. Bacilli (rods) Pseudomonas aeruginosa - Airborne ?no yes Haemophilus influenza - Airborne yes no Klebsiella pneumoniae - Contact yes yes Moraxella catarrhalis - Contact yes yes Common respiratory “bugs” Respiratory Medication Guide Inhalers, nebulizers, antibiotics! What do they Reactive airways may cause the bronchial all do and why do I need so many of them? As tubes to become swollen and the muscle DO YOU HAVE A STORY TO SHARE? Or we have seen from our discussion of pulmo- bands around them to constrict. Trapped a request for specific nary host defense, the respiratory system is mucus in the airways can pool into thick information related to complex and many physical processes must plugs, which become a breeding ground for PCD? We’d love to work together for it to function. Most respira- infection. hear from you! Send tory medication regimens are designed to pre- your ideas to: vent two destructive processes: inflammation As the chart below shows, respiratory medi- info@pcdfoundation. and infection. cation therapy is targeted to treat these un- org, or mail to the derlying issues. Steroids and non-steroidal address on the back When confronted with an insult (pollutant, in- anti-inflammatory drugs (NSAIDS such as fectious agent, irritant, etc.), the body ibuprofen) are primary treatment for inflam- launches a chemical counterattack known as mation. Bronchodilators and muco- the inflammatory response. Inflammation is a lytics are used, often prophylactically with natural and necessary part of immune de- airway clearance therapy, to keep the air- fense. However, when the inflammatory re- ways open. Clear, unrestricted airways are sponse is exaggerated or is sustained for pro- less prone to inflammation and provide a longed periods of time it can cause damage to receptive environment for other medica- delicate tissue. tions, such as antibiotics. Your physician will work with you to develop a treatment Infection is the result of successful contamina- plan for your specific needs. tion by a pathogen. Infection also triggers a chemical counterattack with consequent in- There is considerable interest in developing flammation. It is possible to have inflamma- combination products to reduce the time tion without infection, but infection will always required for daily treatments and in design- be accompanied by inflammation. ing additional drugs (antibiotics, steroids) that can be inhaled into the lungs and si- Two chronic problems complicate the treat- nuses. The goal of inhaled therapy is to re- ment of inflammation and infection for people duce systemic drug side-effects and to more 7 with lung disease: reactive airways and abun- directly impact areas of infection and/or in- dant, thick pulmonary secretions. flammation. Drug Class: Defined: Used to Treat: Routes of Administra- Examples: Comments: tion: Bronchodilators Broncho: airway Airway constric- Oral or inhaled via Oral: theophylline tubes tion and tightness meter-dose inhaler Inhaled/MDI: al- Dilate: (MDI) or nebulization buterol open or expand Nebulized: al- buterol, Xopenex® Mucolytics Muco: pertaining Thin out pulmo- Oral or inhaled via Oral or inhaled/ Oral route gener- to mucus nary secretions nebulizer neb: Mucomyst® ally used for GI Lysis: dissolution Inhaled/neb: hy- problems only, or decomposition pertonic saline, as in CF. Antibiotics Anti: against Infection from a Oral, inhaled, intrave- Oral: Cipro®, Aug- TOBI® is a de- Bios: life, in this bacterial organ- nous (IV) mentin® rivative of tobra- case unwanted ism Inhaled/Neb: mycin. It is the microbial life TOBI® only antibiotic IV: tobramycin, currently cre- Claforan®, vanco- ated specifically mycin for inhaled use. Steroids Stereos: solid Inflammation Oral, inhaled, intrave- Oral: prednisone Oleum: oil nous Inhaled: Pulmi- An organic com- Cort®, pound related to IV: Solu-Medrol® fats Combo Medications Product with two Generally for air- Inhaled Advair® or more drugs, way constriction usually a bron- and inflammation chodilator and a steroid PCD Foundation Primary Business Address 1020 W County Road F Shoreview, Minnesota 55126 Phone: 866-247-9299 Mailing Address Line 1 Fax: 612-822-3496 Mailing Address Line 2 Email: firstname.lastname@example.org Mailing Address Line 3 Mailing Address Line 4 Mailing Address Line 5 We’re on the Web!!! www.pcdfoundation.org Education & Advocacy for People with Inherited Ciliary Disorders 8 Journal Watch NEW ARTICLES OF INTEREST TO THE PCD COMMUNITY The National Library of Medicine (NLM) maintains a database of peer-reviewed arti- cles from international medical journals. The peer-review process means that the PCD News Editorial Staff article is subject to vigorous critical review by a panel of experts prior to being ac- Michele Manion cepted for publication. This information can be accessed by the public at: Lynn Ehrne http://www.ncbi.nlm.nih.gov/PubMed or by typing “entrez pubmed” into your inter- Jane Braverman, PhD net provider search function. Contributors to this Issue Dianne Hardcastle When you enter a query (e.g. primary ciliary dyskinesia) into PubMed, a list of arti- cles will appear, most recent at the top. Click on each article for a link to its ab- Clinical Review stract, or brief overview. Often, the abstract provides enough information and there Michael Knowles, MD, University of North is no need to get the full article. If the full article is desired, there are several ways Carolina, Chapel Hill to obtain it; 1.) universities with medical schools frequently maintain a large inven- Send Comments/Questions/Submissions tory of medical journals. Copies of articles from these journals are usually available to: to the public for a small fee, 2.) articles can be ordered from the publisher for a Michele Manion, Editor (typically exorbitant) fee, and 3.) the PCD Foundation maintains a bibliography of PCD News many articles and may be able to provide a copy. 4752 Park Avenue Minneapolis, MN 55407 ♦ Chilvers, MA. Ciliary beat pattern is associated with specific ultrastructural defects in Circulation Information primary ciliary dyskinesia. Journal of Allergy and Clinical Immunology September, 2003, PCD News is published quarterly by the PCD Foundation. A voluntary subscription volume 112; issue 3, pgs 518-524. fee of $15 per year is requested to cover the costs of production. ♦ Csoma, Z. Nitric oxide metabolites are not reduced in exhaled breath condensate of DISCLAIMER patients with primary ciliary dyskinesia. Chest August, 2003, volume 124; issue 2, pgs This publication is provided for general 633-638. information only and is not intended to replace the advice of your medical profes- ♦ Pizzi, S. Clinico-pathological evaluation of ciliary dyskinesia: diagnostic role of electron sional. Please consult your physician before making any changes to your treat- microscopy. Ultrastructural Pathology July-August, 2003, volume 27; issue 4, pgs 243- ment regimen. 252.