Primary ciliary dyskinesia (PCD)PPrimary ciliary dyskinesia (PCD)Primary ciliary dyskinesia (PCD)EnglishRespiratoryChild (0-12 years);Teen (13-18 years)LungsRespiratory systemConditions and diseasesAdult (19+) CaregiversCough;Wheezing;Nasal congestion;Decreased hearing2019-03-05T05:00:00Z9.6000000000000054.00000000000001951.00000000000Health (A-Z) - ConditionsHealth A-Z<p>Primary ciliary dyskinesia (PCD) is a rare inherited disease that can cause recurring lung, ear and sinus infections. Find out how the condition is caused and treated and the long-term outlook for children with PCD.</p><p>Primary ciliary dyskinesia (PCD) occurs when a child inherits a gene mutation that prevents their cilia from moving properly (see below).</p><p>Cilia are tiny hair-like structures along the respiratory tract that sweep constantly to clear mucus from the lining of the lungs, ears and sinuses. Once the mucus reaches the upper airway, it can be coughed up or swallowed.</p><p>When someone has PCD, their cilia do not move as they should. This means that the mucus that would normally be swept out of the respiratory tract collects in the airways. Trapped mucus carries dirt and bacteria that can cause repeated infections of the respiratory tract, including the lungs, ears and sinuses.</p><p>PCD is a chronic (long-lasting) disease that needs routine follow-up with different health-care professionals. However, with treatment and regular follow-up, most children with PCD have a good quality of life.</p> <figure class="asset-c-80"> <span class="asset-image-title">Primary ciliary dyskinesia</span> <img src="https://assets.aboutkidshealth.ca/akhassets/PCD_EN.jpg" alt="Illustration of mucus movement in normal airway and mucus buildup in airway with primary ciliary dyskinesia (PCD)" /> <figcaption class="asset-image-caption">Cilia are hair-like projections on the cells that line the respiratory system. Normally, cilia help move mucus along the airways. With PCD, a defect in the cilia causes mucus to build up. Trapped mucus carries dirt and bacteria, which can lead to repeated infections in the ears, sinuses and lungs.</figcaption> </figure><h2>Key points</h2><ul><li>Primary ciliary dyskinesia (PCD) is a rare genetic (inherited) condition that affects the lungs, ears and sinuses and may affect the heart.</li><li>Symptoms include recurring ear, sinus and chest infections, nasal congestion, wet coughs and wheezing.</li><li>Treatments can include chest physiotherapy to clear the lungs, nasal rinses or minor surgery to clear the sinuses, antibiotics and suitable exercise.</li><li>With treatment and regular follow-up, most children with PCD have a good quality of life.</li></ul><p>The most common symptoms of primary ciliary dyskinesia are:</p><ul><li>recurring ear infections and/or hearing loss</li><li>a long-lasting “wet” cough from birth or infancy, with or without mucus<br></li><li>recurring chest infections</li><li>wheezing that does not respond to asthma therapy</li><li>nasal congestion, thick nasal drainage or chronic nose infections</li><li>sinus congestion or sinus infections.</li></ul><p>Symptoms usually occur in early childhood, although not everyone who inherits PCD has the same symptoms. </p><p>If symptoms occur in newborns, the first sign of difficulty might be breathing difficulties shortly after birth with a need for oxygen or respiratory support for no clear reason.</p><h3>Recognizing symptoms early<br></h3><p>It is important to recognize the possible symptoms of PCD early, as this will help your child get a prompt diagnosis. Children with a delayed diagnosis of PCD can experience stigma at school because of symptoms, such as a cough.</p><p>It is also worth explaining to teachers that PCD is not contagious — your child cannot spread it to anyone else. However, if another child has PCD or cystic fibrosis, infections could spread more easily between them. In these situations, children should be separated into different classrooms if possible.</p><h2>How is PCD inherited?</h2><p>PCD is a recessive genetic condition. To develop it, a child must inherit two gene mutations, one from each parent.</p><p>In the example in this image, each parent has one PCD gene mutation. This makes them "carriers" — they have the mutation, but they do not have any PCD symptoms. Most parents in this group do not know that they are carriers.</p> <figure class="asset-c-80"> <img src="https://assets.aboutkidshealth.ca/akhassets/PCD_autosomal_recessive_EN.jpg" alt="Chromosome chart for parents both carrying PCD gene with mutation" /></figure> <p>Two carriers have a:</p><ul><li>25 per cent chance of having a child with PCD</li><li>50 per cent chance of having a child who is a carrier</li><li>25 per cent chance of having a child who does not have PCD and is not a carrier</li></ul><p>In other words, their children may inherit two, one or no copies of the PCD gene mutation, as shown.</p><p>If a child inherits a PCD gene mutation from only one parent, they will also be a carrier but will not have PCD. If a child inherits two gene mutations, they will have PCD.</p><p>The risk of having a child with PCD is the same with each pregnancy.</p><h2>How common is PCD?</h2><p>PCD occurs in about one in every 15,000 children worldwide. It is more common in people of South Asian descent, where it occurs in about one in every 2,000 children.</p><h2>How is PCD diagnosed?</h2><p>The symptoms of PCD can mimic those of common childhood illnesses. This can often delay a clear diagnosis of the condition.</p><p>If your child has repeated ear, sinus or chest infections, it is very important that their paediatrician take a careful medical history. If they suspect that your child has primary ciliary dyskinesia, they should refer your child to a paediatric respirologist or a paediatric PCD clinic for specific tests.</p><h3>Tests to confirm a suspected case of PCD</h3><p>Your child may have a number of tests to check for PCD.</p><ul><li>A ciliary biopsy involves removing a small sample of cilia from the lining of the nose or airway and, with a special microscope, looking for proteins that help cilia move normally. If the proteins are missing, it could indicate PCD. This test is available only in specialized PCD clinics and is typically one of the first tests performed.</li><li>For children aged five or older, a nasal nitric oxide test measures the level of a gas called nitric oxide in the air that your child breathes out from their nose. People with PCD have very low levels of nitric oxide in their nasal airway. The test is also available only in specialized PCD clinics.</li><li>A blood test can check for the gene mutations that cause PCD. This test does not always provide definitive results, so your child might still need future genetic testing as more information about the genetic mutations that cause PCD are discovered.</li></ul><h2>How is PCD treated?</h2><p>There is no cure for PCD, but most children with the condition can have a good quality of life with appropriate treatment and regular follow-up. The type of treatment your child receives depends on their PCD symptoms.</p><h3>Treating the lungs</h3><p>Chest physiotherapy (also known as airway clearance) is the main method to help loosen and clear a build-up of lung secretions (mucus).</p><ul><li>For babies and young children, a physiotherapist may teach percussion (tapping or clapping) on the chest in different positions twice a day.</li><li>For older children, a physiotherapist may teach positive expiratory pressure (PEP) techniques using different devices.</li></ul><p>Your child may also receive a suitable <a href="/Article?contentid=1973&language=English">exercise</a> program to help clear their lungs.</p><p>If your child has a lung infection, they may receive antibiotics orally (by mouth) or through a mask, to breathe in. Sometimes, a child may need to be admitted to hospital to receive intense physiotherapy and intravenous antibiotics (antibiotics through a vein).</p><p>Occasionally, even with the best of care, PCD may lead to severe lung disease that needs more intense treatment. For example, a child might need oxygen treatment at night or during exercise.</p><p>For an individual with very severe PCD (their lungs failing badly) doctors might suggest that they be assessed for a lung transplant. If a need for a lung transplant arises, it is usually not until mid or late adulthood.</p><h3>Treating the ears and sinuses</h3><p>If your child’s PCD-related sinus and ear problems are difficult to manage, they might need to see an ear, nose and throat (ENT) doctor. The doctor may recommend nasal rinses to clean the nose and sinuses or even surgery to more thoroughly clean out the sinuses.</p><p></p><p>Some doctors recommend inserting tubes to drain the ear passages. This is called a <a href="/Article?contentid=1217&language=English">myringotomy procedure</a>. This procedure can improve hearing and make it easier to treat any ear infection with a topical antibiotic such as ear drops.</p><p>Some children might need hearing aids to improve their hearing. To prevent speech and language delay, it is important to treat hearing loss as early as possible.</p><p>People with PCD can experience a number of complications because of their symptoms.</p><ul><li>Repeated ear infections can, over time, put your child at risk of hearing loss. They may also delay speech and language abilities in young children.</li><li>Recurring chest infections can lead to bronchiectasis, a type of lung damage that allows mucus and bacteria to build up.</li></ul><h2>When should I seek medical attention?</h2> <p>See a family doctor if your child has:</p><ul><li>a fever</li><li>increased coughing above baseline level for more than a week</li><li>more mucus than in their typical ‘wet’ cough</li><li>blood in their mucus</li><li>ear pain and/or drainage.</li></ul><p>The Hospital for Sick Children at: <a href="http://www.sickkids.ca/RespiratoryMedicine/What-we-do/PCD-Clinic/index.html">Primary Ciliary Dyskinesia Clinic</a>.</p><h2>For more information and support regarding PCD</h2><p>Visit:</p><ul><li> <a href="https://pcdfoundation.org/">PCD Foundation</a></li><li><p> <a href="https://www.rarediseasesnetwork.org/cms/gdmcc">Genetic Disorders of Mucociliary Clearance Consortium</a></p><p></p><p>A network of nine North American centres that are collaborating in the diagnostic testing, genetic studies and clinical trials in patients with impairments in mucociliary clearance, focusing particularly on individuals with PCD.</p></li><li><p><a href="https://www.nhlbi.nih.gov/health-topics/primary-ciliary-dyskinesia">National Heart, Lung, and Blood Institute</a></p><p>A source of information about PCD as well as the latest research on the condition across North America.</p></li><li><p> <a href="https://ghr.nlm.nih.gov/">Genetics Home Reference</a></p><p>A source of consumer-friendly information about the effects of genetic variation on human health.</p></li></ul><p>Shapiro AJ, Zariwala MA, Ferkol T, et al. (2016). Diagnosis, monitoring, and treatment of primary ciliary dyskinesia: PCD foundation consensus recommendations based on state of the art review. <em>Pediatric Pulmonology, 51</em>(2):115-132. doi: <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4912005/">10.1002/ppul.23304</a>. </p>
Dyskinésie ciliaire primaireDDyskinésie ciliaire primairePrimary ciliary dyskinesia (PCD)FrenchRespiratoryChild (0-12 years);Teen (13-18 years)LungsRespiratory systemConditions and diseasesAdult (19+) CaregiversCough;Wheezing;Nasal congestion;Decreased hearing2019-03-05T05:00:00ZHealth (A-Z) - ConditionsHealth A-Z<p>La dyskinésie ciliaire primaire ou dyskinésie ciliaire primitive est une maladie héréditaire rare pouvant provoquer des infections pulmonaires, oculaires ou des sinus. Découvrez ses causes et son traitement, ainsi que le pronostic à long terme des enfants dyskinétiques.</p><p>Un enfant souffre de dyskinésie ciliaire primaire ou dyskinésie ciliaire primitive lorsque ses parents lui transmettent une mutation génétique empêchant les cils de ses poumons de fonctionner correctement (voir ci‑dessous).</p><p>Les cils sont de minuscules poils tapissant les voies respiratoires. Ils font constamment circuler le mucus pour dégager la paroi des poumons, des oreilles et des sinus. Dès que le mucus de l’enfant atteint la grosse bronche, il s’en débarrasse en toussant ou en l’avalant.</p><p>Lorsqu’un enfant souffre de dyskinésie ciliaire primaire, ses cils ne fonctionnent pas normalement. En effet, le mucus s’accumule dans les voies respiratoires au lieu d’en être expulsé. Il retient ainsi la saleté et les bactéries, ce qui cause des infections répétées des voies respiratoires, notamment dans les poumons, les oreilles et les sinus.</p><p>La dyskinésie ciliaire primaire est une maladie chronique (qui dure longtemps). L’enfant doit faire l’objet d’un suivi régulier de la part de plusieurs professionnels de la santé. Cela dit, la plupart des enfants atteint de dyskinésie ciliaire primaire jouissent d’une bonne qualité de vie, pourvu qu’ils suivent leur traitement et soient suivis régulièrement.</p> <figure class="asset-c-80"><span class="asset-image-title">Dyskinésie ciliaire primaire</span><img src="https://assets.aboutkidshealth.ca/akhassets/PCD_FR.jpg" alt="Illustration de l'accumulation de mucus dans les voies respiratoire d'une personne atteinte de dyskinésie ciliaire primaire" /><figcaption class="asset-image-caption">Les cils sont les poils dont sont dotées les cellules tapissant l’appareil respiratoire. Normalement, ils contribuent à faire circuler le mucus le long des voies respiratoires. Lorsque le patient est atteint de dyskinésie ciliaire primaire, un défaut des cils provoque une accumulation de mucus. Ces accumulations de mucus renferment de la saleté et des bactéries pouvant causer des infections répétées des oreilles, des sinus et des poumons.</figcaption> </figure><h2>À retenir</h2><ul><li>La dyskinésie ciliaire primaire ou dyskinésie ciliaire primaire est une maladie héréditaire rare touchant les poumons, les oreilles et les sinus, et parfois le cœur.</li><li>On compte parmi les symptômes les infections récurrentes des oreilles, des sinus et de la poitrine, la congestion nasale, la toux grasse et la respiration sifflante.</li><li>On compte parmi les traitements la kinésithérapie de drainage qui sert à dégager les poumons, l’irrigation nasale ou les opérations mineures pratiquées en vue de dégager les sinus, les antibiotiques et l’exercice.</li><li>Pourvu qu’ils suivent leur traitement et fassent l’objet d’un suivi régulier, la plupart des enfants dyskinétiques jouissent d’une bonne qualité de vie.</li></ul><p>Les symptômes les plus répandus de la dyskinésie ciliaire primaire sont les suivants :</p><ul><li>infections auriculaires ou perte auditives récurrentes;</li><li>toux grasse chronique depuis la naissance ou la petite enfance, avec ou sans mucus;</li><li>infections récurrentes à la poitrine;</li><li>respiration sifflante sur laquelle le traitement de l’asthme reste sans effet;</li><li>congestion nasale, écoulement nasal épais ou infections nasales chroniques;</li><li>congestion ou infections des sinus.</li></ul><p>Bien que les symptômes se manifestent surtout pendant la petite enfance, ils diffèrent d’un patient à l’autre.</p><p>Lorsque les symptômes se présentent chez les nouveau-nés, le premier signe peut être une difficulté à respirer peu après la naissance et le besoin de recevoir de l’oxygène ou un soutien respiratoire sans raison évidente.</p><p></p><h3>Reconnaître les symptômes dès qu’ils se manifestent</h3><p>Il est important de reconnaître les symptômes éventuels de la dyskinésie ciliaire primaire dès qu’ils se manifestent, afin d’aider votre enfant à se faire diagnostiquer sans tarder. Les enfants diagnostiqués sur le tard risquent de se faire stigmatiser à l’école en raison de leurs symptômes, la toux entre autres.</p><p></p><p>De plus, il n’est pas inutile d’expliquer aux professeurs de votre enfant qu’il n’est pas contagieux et que personne n’attrapera sa maladie. Par contre, si un autre élève est atteint de dyskinésie ciliaire primaire ou de fibrose kystique, ils risquent de se transmettre des infections l’un à l’autre et mieux vaut les placer dans des classes différentes si possible.</p><p></p><h2>Comment la dyskinésie ciliaire primaire se transmet-elle génétiquement?</h2><p>La dyskinésie ciliaire primaire est une maladie récessive. Pour la contracter, l’enfant doit hériter de deux mutations génétiques, soit une du père et l’autre de la mère.</p><p></p><p>Dans l’exemple figurant dans l’illustration, chacun des deux parents a une mutation, ce qui en fait des porteurs. Autrement dit, ils ont la mutation, mais ne présentent aucun symptôme. La plupart des parents se trouvant dans ce cas ne savent pas qu’ils sont porteurs.</p> <figure class="asset-c-80"> <img src="https://assets.aboutkidshealth.ca/akhassets/PCD_autosomal_recessive_FR.jpg" alt="Les combinaisons de chromosomes possibles de deux parents porteurs de dyskinésie" /></figure> <p>Si les deux parents sont des porteurs, les chances et les risques sont les suivants :</p><ul><li>25 % d’avoir un enfant dyskinétique;</li><li>50 % d’avoir un enfant porteur;</li><li>25 % d’avoir un enfant qui n’est ni porteur ni dyskinétique.</li></ul><p>Autrement dit, leurs enfants hériteront de deux copies de leur mutation, d’une seule ou d’aucune.</p><p>Si l’enfant hérite d’une mutation d’un seul de ses deux parents, il sera porteur mais ne sera pas atteint de la maladie. Par contre, s’il hérite des deux mutations, il sera atteint de dyskinésie ciliaire primaire.</p><p>Le risque d’avoir une enfant atteint de dyskinésie ciliaire primaire est le même à chaque grossesse.</p><h2>La dyskinésie ciliaire primaire est-elle une maladie répandue?</h2><p>À l’échelle de la planète, la dyskinésie ciliaire primaire affecte environ un enfant sur 15 000. Elle est toutefois plus répandue chez les personnes originaires d’Asie du Sud, où on l’observe chez environ un enfant sur 2000.</p><h2>Diagnostic de la dyskinésie ciliaire primaire</h2><p>Les symptômes de la dyskinésie ciliaire primaire ressemblent parfois à ceux des maladies infantiles les plus fréquentes, ce qui retarde souvent le diagnostic.</p><p>Si votre enfant souffre à répétition d’infections aux oreilles, aux sinus ou à la poitrine, il est très important que son pédiatre connaisse à fond ses antécédents médicaux. S’il soupçonne que votre enfant est atteint de dyskinésie ciliaire primaire, il devrait lui faire subir des tests par un pneumologue pédiatrique ou dans une clinique pédiatrique spécialisée en dyskinésie ciliaire primaire.</p><h3>Tests visant à confirmer la présence de dyskinésie ciliaire primaire</h3><p>Votre enfant peut devoir subir plusieurs tests visant à diagnostiquer la dyskinésie ciliaire primaire.</p><ul><li>Lorsqu’on pratique une biopsie ciliaire, on prélève un petit échantillon des cils tapissant le nez ou les voies respiratoires. À l’aide d’un microscope spécial, on cherche les protéines qui aident les cils à fonctionner normalement. Si ces protéines sont absentes, il se peut que l’enfant soit dyskinétique. Pratiqué uniquement par des cliniques spécialisées, ce test est habituellement l’un des premiers tests effectués.<br></li><li>Dans le cas des enfants de cinq ans ou plus, on mesure la quantité d’oxyde nitrique qu’expire votre enfant. En effet, les voies respiratoires nasales des personnes atteint de dyskinésie ciliaire primaire contiennent de très faibles quantités de ce gaz. Ce test n’est offert que dans les cliniques spécialisées.</li><li>Les analyses sanguines permettent de vérifier les mutations causant la dyskinésie ciliaire primaire. Par contre, comme ce test ne donne pas toujours de résultats définitifs, il se peut que votre enfant doive subir d’autres tests génétiques à l’avenir, à mesure qu’on fera de nouvelles découvertes sur les mutations causant cette maladie.</li></ul><h2>Traitement de la dyskinésie ciliaire primaire</h2><p>Bien que la dyskinésie ciliaire primaire soit incurable, la plupart des enfants dyskinétiques peuvent jouir d’une bonne qualité de vie, pourvu qu’ils suivent leur traitement et fassent l’objet d’un suivi régulier. Le type de traitement que reçoit votre enfant dépend de ses symptômes.</p><h3>Traitement des poumons</h3><p>La kinésithérapie de drainage est la méthode principale qui aide à soulager la congestion et à expulser des poumons le mucus qui s’y trouve en excès.</p><ul><li>Pour les bébés et les enfants en bas âge, le physiothérapeute peut vous enseigner la percussion (frapper à petits coups) de la poitrine que vous devrez pratiquer à divers endroits deux fois par jour.</li><li>Pour les enfants plus âgés, le physiothérapeute peut enseigner des techniques de pression expiratoire positive à l’aide de plusieurs appareils.</li></ul><p>Il se peut aussi que votre enfant suive un programme d’<a href="/Article?contentid=1973&language=French">exercice</a> qui l’aidera à dégager ses poumons.</p><p>Si votre enfant a contracté une infection pulmonaire, il peut recevoir des antibiotiques par voie orale (par la bouche) ou par un masque qui l’aide à respirer. Il arrive aussi qu’il doive être hospitalisé afin de suivre une physiothérapie intense et de recevoir des antibiotiques par intraveineuse.</p><p>De plus, il arrive parfois que, même avec les soins les plus attentifs, la dyskinésie ciliaire primaire cause de graves troubles pulmonaires demandant un traitement plus intense. Par exemple, il est possible qu’un enfant ait besoin d’oxygénothérapie la nuit ou pendant qu’il fait de l’exercice.</p><p>Lorsque le patient souffre d’une forme très grave de dyskinésie ciliaire primaire et que ses poumons défaillent complètement, le médecin peut suggérer d’évaluer s’il aurait besoin d’une greffe pulmonaire. Si c’est le cas, ces greffes ne se font normalement pas avant le milieu ou la fin de l’âge adulte.</p><h3>Traitement des oreilles et des sinus</h3><p>Si les troubles auriculaires et de sinus reliés à la dyskinésie ciliaire primaire sont difficiles à gérer, il se peut qu’il doive consulter un otorhinolaryngologiste, qui peut recommander des irrigations nasales pour dégager le nez et les sinus, voire une opération qui dégagera les sinus plus en profondeur.</p><p>Certains otorhinolaryngologistes suggèrent d’insérer des tubes qui draineront le conduit auditif. Cette intervention s’appelle une <a href="/Article?contentid=1217&language=French">myringotomie</a>. Elle peut améliorer l’ouïe de votre enfant et faciliter le traitement des infections auriculaires par un antibiotique topique comme des gouttes auriculaires.</p><p>Les dyskinétiques risquent de souffrir de certaines complications en raison de leurs symptômes.</p><ul><li>Au fil du temps, les infections auriculaires à répétition dont souffre votre enfant risquent de provoquer chez lui des pertes auditives. Chez les enfants en bas âge, elles peuvent aussi causer des retards orthophoniques.</li><li>Les infections récurrentes à la poitrine risquent de causer la bronchectasie, trouble pulmonaire où le mucus et les bactéries s’accumulent dans les bronches.</li></ul><h2>Dans quels cas consulter un médecin</h2><p>Consultez votre médecin de famille dans les cas suivants :</p><ul><li>fièvre;</li><li>toux plus forte que la normale pendant plus d’une semaine;</li><li>quantité de mucus plus abondante que celle que votre enfant expectore pendant ses épisodes typiques de toux grasse;</li><li>présence de sang dans son mucus;<br></li><li>douleur auriculaire ou liquide coulant de l’oreille.</li></ul><p>L’hôpital SickKids à la <a href="http://www.sickkids.ca/RespiratoryMedicine/What-we-do/PCD-Clinic/index.html">Primary Ciliary Dyskinesia Clinic</a>.</p><h2>Pour en savoir plus long sur la dyskinésie ciliaire primaire et obtenir du soutien à cet égard</h2><p>Consultez les sites suivants (en anglais) :</p><ul><li><a href="https://pcdfoundation.org/">PCD Foundation</a></li><li><a href="https://www.rarediseasesnetwork.org/cms/gdmcc">Genetic Disorders of Mucociliary Clearance Consortium</a> : Réseau de neuf centres nord-américains collaborant dans les domaines suivants : administration de tests diagnostiques, études génétiques et essais cliniques chez les patients éprouvant des troubles de clairance mucociliaire. Ces centres mettent l’accent sur les patients atteints de dyskinésie ciliaire primaire.</li><li><a href="https://www.nhlbi.nih.gov/health-topics/primary-ciliary-dyskinesia">National Heart, Lung, and Blood Institute (américain</a>) : Source d’information sur la dyskinésie ciliaire primaire et les toutes dernières recherches menées sur la maladie en Amérique du Nord.</li><li><a href="https://ghr.nlm.nih.gov/">Genetics Home Reference (américaine</a>) : Source de renseignements faciles à comprendre pour le consommateur et portant sur les effets des variations génétiques sur la santé humaine.</li></ul><p>Shapiro AJ, Zariwala MA, Ferkol T, et al. (2016). Diagnosis, monitoring, and treatment of primary ciliary dyskinesia: PCD foundation consensus recommendations based on state of the art review. Pediatric Pulmonology, 51(2):115-132. doi: 10.1002/ppul.23304.</p>

 

 

 

 

Primary ciliary dyskinesia (PCD)3771.00000000000Primary ciliary dyskinesia (PCD)Primary ciliary dyskinesia (PCD)PEnglishRespiratoryChild (0-12 years);Teen (13-18 years)LungsRespiratory systemConditions and diseasesAdult (19+) CaregiversCough;Wheezing;Nasal congestion;Decreased hearing2019-03-05T05:00:00Z9.6000000000000054.00000000000001951.00000000000Health (A-Z) - ConditionsHealth A-Z<p>Primary ciliary dyskinesia (PCD) is a rare inherited disease that can cause recurring lung, ear and sinus infections. Find out how the condition is caused and treated and the long-term outlook for children with PCD.</p><p>Primary ciliary dyskinesia (PCD) occurs when a child inherits a gene mutation that prevents their cilia from moving properly (see below).</p><p>Cilia are tiny hair-like structures along the respiratory tract that sweep constantly to clear mucus from the lining of the lungs, ears and sinuses. Once the mucus reaches the upper airway, it can be coughed up or swallowed.</p><p>When someone has PCD, their cilia do not move as they should. This means that the mucus that would normally be swept out of the respiratory tract collects in the airways. Trapped mucus carries dirt and bacteria that can cause repeated infections of the respiratory tract, including the lungs, ears and sinuses.</p><p>PCD is a chronic (long-lasting) disease that needs routine follow-up with different health-care professionals. However, with treatment and regular follow-up, most children with PCD have a good quality of life.</p> <figure class="asset-c-80"> <span class="asset-image-title">Primary ciliary dyskinesia</span> <img src="https://assets.aboutkidshealth.ca/akhassets/PCD_EN.jpg" alt="Illustration of mucus movement in normal airway and mucus buildup in airway with primary ciliary dyskinesia (PCD)" /> <figcaption class="asset-image-caption">Cilia are hair-like projections on the cells that line the respiratory system. Normally, cilia help move mucus along the airways. With PCD, a defect in the cilia causes mucus to build up. Trapped mucus carries dirt and bacteria, which can lead to repeated infections in the ears, sinuses and lungs.</figcaption> </figure><h2>PCD and other organ systems</h2><p>About half of all people with PCD also have <em>situs inversus totalis</em>. This occurs when the organs in the chest and abdomen are reversed; for example, the heart and stomach are on the right and the liver is on the left. In most cases, this abnormal organ placement is not harmful.</p><p>However, a small minority of people with PCD have organ abnormalities that might affect their functioning and health. These can include congenital heart defects (heart defects from birth), polysplenia (multiple spleens) or asplenia (no spleen).</p><h2>Key points</h2><ul><li>Primary ciliary dyskinesia (PCD) is a rare genetic (inherited) condition that affects the lungs, ears and sinuses and may affect the heart.</li><li>Symptoms include recurring ear, sinus and chest infections, nasal congestion, wet coughs and wheezing.</li><li>Treatments can include chest physiotherapy to clear the lungs, nasal rinses or minor surgery to clear the sinuses, antibiotics and suitable exercise.</li><li>With treatment and regular follow-up, most children with PCD have a good quality of life.</li></ul><p>The most common symptoms of primary ciliary dyskinesia are:</p><ul><li>recurring ear infections and/or hearing loss</li><li>a long-lasting “wet” cough from birth or infancy, with or without mucus<br></li><li>recurring chest infections</li><li>wheezing that does not respond to asthma therapy</li><li>nasal congestion, thick nasal drainage or chronic nose infections</li><li>sinus congestion or sinus infections.</li></ul><p>Symptoms usually occur in early childhood, although not everyone who inherits PCD has the same symptoms. </p><p>If symptoms occur in newborns, the first sign of difficulty might be breathing difficulties shortly after birth with a need for oxygen or respiratory support for no clear reason.</p><h3>Recognizing symptoms early<br></h3><p>It is important to recognize the possible symptoms of PCD early, as this will help your child get a prompt diagnosis. Children with a delayed diagnosis of PCD can experience stigma at school because of symptoms, such as a cough.</p><p>It is also worth explaining to teachers that PCD is not contagious — your child cannot spread it to anyone else. However, if another child has PCD or cystic fibrosis, infections could spread more easily between them. In these situations, children should be separated into different classrooms if possible.</p><h2>How is PCD inherited?</h2><p>PCD is a recessive genetic condition. To develop it, a child must inherit two gene mutations, one from each parent.</p><p>In the example in this image, each parent has one PCD gene mutation. This makes them "carriers" — they have the mutation, but they do not have any PCD symptoms. Most parents in this group do not know that they are carriers.</p> <figure class="asset-c-80"> <img src="https://assets.aboutkidshealth.ca/akhassets/PCD_autosomal_recessive_EN.jpg" alt="Chromosome chart for parents both carrying PCD gene with mutation" /></figure> <p>Two carriers have a:</p><ul><li>25 per cent chance of having a child with PCD</li><li>50 per cent chance of having a child who is a carrier</li><li>25 per cent chance of having a child who does not have PCD and is not a carrier</li></ul><p>In other words, their children may inherit two, one or no copies of the PCD gene mutation, as shown.</p><p>If a child inherits a PCD gene mutation from only one parent, they will also be a carrier but will not have PCD. If a child inherits two gene mutations, they will have PCD.</p><p>The risk of having a child with PCD is the same with each pregnancy.</p><h2>How common is PCD?</h2><p>PCD occurs in about one in every 15,000 children worldwide. It is more common in people of South Asian descent, where it occurs in about one in every 2,000 children.</p><h2>How is PCD diagnosed?</h2><p>The symptoms of PCD can mimic those of common childhood illnesses. This can often delay a clear diagnosis of the condition.</p><p>If your child has repeated ear, sinus or chest infections, it is very important that their paediatrician take a careful medical history. If they suspect that your child has primary ciliary dyskinesia, they should refer your child to a paediatric respirologist or a paediatric PCD clinic for specific tests.</p><h3>Tests to confirm a suspected case of PCD</h3><p>Your child may have a number of tests to check for PCD.</p><ul><li>A ciliary biopsy involves removing a small sample of cilia from the lining of the nose or airway and, with a special microscope, looking for proteins that help cilia move normally. If the proteins are missing, it could indicate PCD. This test is available only in specialized PCD clinics and is typically one of the first tests performed.</li><li>For children aged five or older, a nasal nitric oxide test measures the level of a gas called nitric oxide in the air that your child breathes out from their nose. People with PCD have very low levels of nitric oxide in their nasal airway. The test is also available only in specialized PCD clinics.</li><li>A blood test can check for the gene mutations that cause PCD. This test does not always provide definitive results, so your child might still need future genetic testing as more information about the genetic mutations that cause PCD are discovered.</li></ul><h2>How is PCD treated?</h2><p>There is no cure for PCD, but most children with the condition can have a good quality of life with appropriate treatment and regular follow-up. The type of treatment your child receives depends on their PCD symptoms.</p><h3>Treating the lungs</h3><p>Chest physiotherapy (also known as airway clearance) is the main method to help loosen and clear a build-up of lung secretions (mucus).</p><ul><li>For babies and young children, a physiotherapist may teach percussion (tapping or clapping) on the chest in different positions twice a day.</li><li>For older children, a physiotherapist may teach positive expiratory pressure (PEP) techniques using different devices.</li></ul><p>Your child may also receive a suitable <a href="/Article?contentid=1973&language=English">exercise</a> program to help clear their lungs.</p><p>If your child has a lung infection, they may receive antibiotics orally (by mouth) or through a mask, to breathe in. Sometimes, a child may need to be admitted to hospital to receive intense physiotherapy and intravenous antibiotics (antibiotics through a vein).</p><p>Occasionally, even with the best of care, PCD may lead to severe lung disease that needs more intense treatment. For example, a child might need oxygen treatment at night or during exercise.</p><p>For an individual with very severe PCD (their lungs failing badly) doctors might suggest that they be assessed for a lung transplant. If a need for a lung transplant arises, it is usually not until mid or late adulthood.</p><h3>Treating the ears and sinuses</h3><p>If your child’s PCD-related sinus and ear problems are difficult to manage, they might need to see an ear, nose and throat (ENT) doctor. The doctor may recommend nasal rinses to clean the nose and sinuses or even surgery to more thoroughly clean out the sinuses.</p><p></p><p>Some doctors recommend inserting tubes to drain the ear passages. This is called a <a href="/Article?contentid=1217&language=English">myringotomy procedure</a>. This procedure can improve hearing and make it easier to treat any ear infection with a topical antibiotic such as ear drops.</p><p>Some children might need hearing aids to improve their hearing. To prevent speech and language delay, it is important to treat hearing loss as early as possible.</p><p>People with PCD can experience a number of complications because of their symptoms.</p><ul><li>Repeated ear infections can, over time, put your child at risk of hearing loss. They may also delay speech and language abilities in young children.</li><li>Recurring chest infections can lead to bronchiectasis, a type of lung damage that allows mucus and bacteria to build up.</li></ul><h2>Activity</h2><p>Children with PCD are encouraged to play games and exercise regularly to the best of their ability.</p><p>Activities such as running and swimming are often helpful because they help clear the lungs of mucus. Your child may also benefit from other <a href="/Article?contentid=1973&language=English">forms of exercise</a>. </p><p>To avoid infection, children with PCD should:</p><ul><li>take reasonable infection control precautions such as <a href="/Article?contentid=1981&language=English">washing hands</a> frequently, particularly before eating and avoiding contact with people with a cold or illness</li><li>stay up to date with <a href="/Article?contentid=1986&language=English">routine scheduled immunizations (shots)</a>, including the pneumococcal vaccine and the yearly flu vaccine. You can arrange to get these shots at your family doctor’s office.</li></ul><h2>When should I seek medical attention?</h2> <p>See a family doctor if your child has:</p><ul><li>a fever</li><li>increased coughing above baseline level for more than a week</li><li>more mucus than in their typical ‘wet’ cough</li><li>blood in their mucus</li><li>ear pain and/or drainage.</li></ul><h2>What type of follow-up care does my child need?</h2><p>Your child will have a check-up every three to four months at a PCD clinic. The health-care team at the clinic will review your child’s overall health and functioning and offer treatment and support to manage PCD symptoms.</p><h3>Review of symptoms</h3><p>Your child's health-care team will:</p><ul><li>monitor your child’s lung function (breathing)</li><li>test your child’s sputum (mucus and saliva) for any harmful bacteria</li><li>test your child’s hearing, about once a year</li><li>do a chest x-ray and CT scan in case of ongoing chest problems.</li></ul><h3>Managing symptoms</h3><p>If your child has any mucus build-up or signs of infection at the time of their follow-up appointment, they may receive:</p><ul><li>chest physiotherapy to clear their airways</li><li>antibiotics (intravenously or by mouth), usually at a higher dose and for two to three weeks</li><li>inhaled medications to help clear mucus.</li></ul><h3>Transition to adult care</h3><p>During their regular check-ups, older children and teens will receive support to help them transition to the adult health-care system. They will have a chance to meet with the health-care team on their own to encourage their learning and independence. This includes understanding their PCD, the medications they are taking, how to refill their medication and how to book appointments. Teens may also receive genetic counselling to help with their own family planning in the future.</p><p>The Hospital for Sick Children at: <a href="http://www.sickkids.ca/RespiratoryMedicine/What-we-do/PCD-Clinic/index.html">Primary Ciliary Dyskinesia Clinic</a>.</p><h2>For more information and support regarding PCD</h2><p>Visit:</p><ul><li> <a href="https://pcdfoundation.org/">PCD Foundation</a></li><li><p> <a href="https://www.rarediseasesnetwork.org/cms/gdmcc">Genetic Disorders of Mucociliary Clearance Consortium</a></p><p></p><p>A network of nine North American centres that are collaborating in the diagnostic testing, genetic studies and clinical trials in patients with impairments in mucociliary clearance, focusing particularly on individuals with PCD.</p></li><li><p><a href="https://www.nhlbi.nih.gov/health-topics/primary-ciliary-dyskinesia">National Heart, Lung, and Blood Institute</a></p><p>A source of information about PCD as well as the latest research on the condition across North America.</p></li><li><p> <a href="https://ghr.nlm.nih.gov/">Genetics Home Reference</a></p><p>A source of consumer-friendly information about the effects of genetic variation on human health.</p></li></ul><p>Shapiro AJ, Zariwala MA, Ferkol T, et al. (2016). Diagnosis, monitoring, and treatment of primary ciliary dyskinesia: PCD foundation consensus recommendations based on state of the art review. <em>Pediatric Pulmonology, 51</em>(2):115-132. doi: <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4912005/">10.1002/ppul.23304</a>. </p>https://assets.aboutkidshealth.ca/akhassets/PCD_EN.jpgPrimary ciliary dyskinesia (PCD)False