Primary ciliary dyskinesia
Dernière mise à jour 10 Dec 2025
Respecte les directives éditoriales
- TéléchargerTélécharger
- Partager
- Language
- Discussion
- Version audio
- Ajouter aux sources préférées sur Google
Primary ciliary dyskinesia is a disorder that is characterised by chronic respiratory tract infections, abnormally positioned internal organs, and difficulties having biological children (decreased fertility). The signs and symptoms of this condition are caused by abnormal cilia and flagella. Cilia are microscopic, finger-like projections that stick out from the surface of cells. Cilia help cells move where they are needed; they also help move substances within the body. Flagella, which are similar to cilia, are tail-like structures that propel sperm cells forward.
Description
Primary ciliary dyskinesia is a disorder that is characterised by chronic respiratory tract infections, abnormally positioned internal organs, and difficulties having biological children (decreased fertility). The signs and symptoms of this condition are caused by abnormal cilia and flagella. Cilia are microscopic, finger-like projections that stick out from the surface of cells. Cilia help cells move where they are needed; they also help move substances within the body. Flagella, which are similar to cilia, are tail-like structures that propel sperm cells forward.
Without properly functioning cilia, people with primary ciliary dyskinesia often have problems removing fluid and particles from their airways. Most babies with primary ciliary dyskinesia experience breathing problems at birth (neonatal respiratory distress), which suggests that cilia also play an important role in clearing fetal fluid from the lungs. Children with primary ciliary dyskinesia typically have year-round nasal congestion and a chronic cough beginning in the first year of life. Because affected individuals also have trouble removing bacteria from the respiratory tract, they may experience frequent respiratory tract infections beginning in early childhood. Chronic respiratory tract infections can result in a condition called bronchiectasis, which damages the passages that lead from the windpipe to the lungs (bronchi). Bronchiectasis can cause life-threatening breathing problems.
Another feature of primary ciliary dyskinesia is recurrent ear infections (otitis media), especially in young children. Otitis media can lead to permanent hearing loss if left untreated. These ear infections are likely related to abnormal cilia within the inner ear.
About 40 percent of people with primary ciliary dyskinesia have a mirror-image reversal of their internal organs (situs inversus totalis). For example, the heart is on the right side of the body instead of the left in these individuals. These abnormalities arise early in embryonic development when the differences between the left and right sides of the body are established. Situs inversus totalis does not typically cause additional health problems. When someone with primary ciliary dyskinesia has situs inversus totalis, they are often said to have Kartagener syndrome.
Heterotaxy syndrome (sometimes also called situs ambiguous) is another disorder of organ development that can be associated with primary ciliary dyskinesia. Approximately 9 to 12 percent of people with primary ciliary dyskinesia have heterotaxy syndrome, which is characterised by abnormalities of the heart, liver, intestines, or spleen. These organs may be structurally abnormal or improperly positioned. In addition, affected individuals may lack a spleen (asplenia) or have multiple spleens (polysplenia). Heterotaxy syndrome is also a result of problems establishing the left and right sides of the body during embryonic development. The severity of heterotaxy syndrome varies widely among affected individuals, and people with this condition may have heart abnormalities that can be life-threatening.
Primary ciliary dyskinesia can also cause fertility problems. Vigorous movements of the flagella are necessary to propel the sperm cells forward to the egg cell. Because their sperm do not move properly, males with primary ciliary dyskinesia often have decreased fertility. Decreased fertility also occurs in some affected females and is likely due to abnormal cilia in the fallopian tubes, which impairs the movement of the egg cell from the ovary to the uterus.
In rare cases, individuals with primary ciliary dyskinesia have an accumulation of fluid in the brain (hydrocephalus). Researchers do not fully understand why some people with primary ciliary dyskinesia develop hydrocephalus.
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal dominant+New variant; Autosomal recessive; X-linked. More than one pattern can apply in different cases.
Related genes
Other names
CILD
Kartagener syndrome
PCD
Related patient information and medicines
Patient information leaflet
Sinusite chronique
Examples inclu... Granulomatosis with polyangiitis , a rare condition causing inflammation of blood vessels. La dyskinésie ciliaire primaire, une affection héréditaire rare qui empêche le corps de déplacer et d'éliminer le mucus des voies nasales, des sinus, des voies respiratoires, et d'autres endroits. A severely weakened immune system , which can make people more.
Patient information leaflet
Problèmes oculaires
The ciliary body is a small ring-like muscle that sits behind your iris and which helps the eye to focus. Eye fluid and drainage conditions: the ciliary body and trabecular meshwork La ciliary body is a part of the eye which includes the following: The ciliary muscle (which changes the shape of the pupil by changing the shape of the iris). The.
Patient information leaflet
l'hypermétropie
The medical name for long-sightedness est hypermetropia, sometimes called hyperopia. Tiny string-like structures called the suspensory ligaments are attached at one end to the lens and at the other to the ciliary... This is a bit like a trampoline with the central bouncy bit being the lens, the suspensory ligaments being the springs and the ciliary.
Patient information leaflet
Myopie
What are the symptoms of myopia (short-sightedness). The shape of the lens is varied by small muscles in the ciliary body. This is a bit like a trampoline with the central bouncy bit being the lens, the suspensory ligaments being ... When the ciliary muscles in the ciliary body tighten, the suspensory ligaments slacken, causing the lens to become.
Patient information leaflet
Astigmatisme
Tiny string-like structures called the suspensory ligaments are attached at one end to the lens and at the other to the ciliary body. This is a bit like a trampoline with the central bouncy bit being the lens, the suspensory ligaments being the springs and the ciliary muscles being the rim around the edge. When the ciliary muscles in the ciliary.
Patient information leaflet
Blépharospasme
Blépharospasme is a condition in which blinking or spasmodic closing of the eyes occurs at an increased rate. This leaflet is mainly about primary blepharospasm, also called benign essential blépharospasme (BEB). Tardive dyskinesia (see below). ...ows, forehead, lips, jaw and tongueIc tardive dyskinesia related to blepharospasm. Tardive dyskinesia.
Lectures complémentaires et références
- Primary ciliary dyskinesia; MedlinePlus, National Library of Medicine.
- Despotes KA, Zariwala MA, Davis SD, Ferkol TW. Primary Ciliary Dyskinesia: A Clinical Review. Cells. 2024 Jun 4;13(11):974. doi: 10.3390/cells13110974.
- Escudier E, Duquesnoy P, Papon JF, Amselem S. Ciliary defects and genetics of primary ciliary dyskinesia. Paediatr Respir Rev. 2009 Jun;10(2):51-4. doi: 10.1016/j.prrv.2009.02.001. Epub 2009 Apr 18.
- Failly M, Bartoloni L, Letourneau A, Munoz A, Falconnet E, Rossier C, de Santi MM, Santamaria F, Sacco O, DeLozier-Blanchet CD, Lazor R, Blouin JL. Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia. J Med Genet. 2009 Apr;46(4):281-6. doi: 10.1136/jmg.2008.061176.
- Failly M, Saitta A, Munoz A, Falconnet E, Rossier C, Santamaria F, de Santi MM, Lazor R, DeLozier-Blanchet CD, Bartoloni L, Blouin JL. DNAI1 mutations explain only 2% of primary ciliary dykinesia. Respiration. 2008;76(2):198-204. doi: 10.1159/000128567. Epub 2008 Apr 23.
- Hannah WB, Seifert BA, Truty R, Zariwala MA, Ameel K, Zhao Y, Nykamp K, Gaston B. The global prevalence and ethnic heterogeneity of primary ciliary dyskinesia gene variants: a genetic database analysis. Lancet Respir Med. 2022 May;10(5):459-468. doi: 10.1016/S2213-2600(21)00453-7. Epub 2022 Jan 17.
- Horani A, Brody SL, Ferkol TW. Picking up speed: advances in the genetics of primary ciliary dyskinesia. Pediatr Res. 2014 Jan;75(1-2):158-64. doi: 10.1038/pr.2013.200. Epub 2013 Nov 5.
- Hornef N, Olbrich H, Horvath J, Zariwala MA, Fliegauf M, Loges NT, Wildhaber J, Noone PG, Kennedy M, Antonarakis SE, Blouin JL, Bartoloni L, Nusslein T, Ahrens P, Griese M, Kuhl H, Sudbrak R, Knowles MR, Reinhardt R, Omran H. DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects. Am J Respir Crit Care Med. 2006 Jul 15;174(2):120-6. doi: 10.1164/rccm.200601-084OC. Epub 2006 Apr 20.
- Kennedy MP, Omran H, Leigh MW, Dell S, Morgan L, Molina PL, Robinson BV, Minnix SL, Olbrich H, Severin T, Ahrens P, Lange L, Morillas HN, Noone PG, Zariwala MA, Knowles MR. Congenital heart disease and other heterotaxic defects in a large cohort of patients with primary ciliary dyskinesia. Circulation. 2007 Jun 5;115(22):2814-21. doi: 10.1161/CIRCULATIONAHA.106.649038. Epub 2007 May 21.
- Leigh MW, Pittman JE, Carson JL, Ferkol TW, Dell SD, Davis SD, Knowles MR, Zariwala MA. Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome. Genet Med. 2009 Jul;11(7):473-87. doi: 10.1097/GIM.0b013e3181a53562.
- Morillas HN, Zariwala M, Knowles MR. Genetic causes of bronchiectasis: primary ciliary dyskinesia. Respiration. 2007;74(3):252-63. doi: 10.1159/000101783.
- Raidt J, Riepenhausen S, Pennekamp P, Olbrich H, Amirav I, Athanazio RA, Aviram M, Balinotti JE, Bar-On O, Bode SFN, Boon M, Borrelli M, Carr SB, Crowley S, Dehlink E, Diepenhorst S, Durdik P, Dworniczak B, Emiralioglu N, Erdem E, Fonnesu R, Gracci S, Grosse-Onnebrink J, Gwozdziewicz K, Haarman EG, Hansen CR, Hogg C, Holgersen MG, Kerem E, Korner RW, Kotz K, Kouis P, Loebinger MR, Lorent N, Lucas JS, Maj D, Mall MA, Marthin JK, Martinu V, Mazurek H, Mitchison HM, Nothe-Menchen T, Ozcelik U, Pifferi M, Pogorzelski A, Ringshausen FC, Roehmel JF, Rovira-Amigo S, Rumman N, Schlegtendal A, Shoemark A, Sperstad Kennelly S, Staar BO, Sutharsan S, Thomas S, Ullmann N, Varghese J, von Hardenberg S, Walker WT, Wetzke M, Witt M, Yiallouros P, Zschocke A, Zietkiewicz E, Nielsen KG, Omran H. Analyses of 1236 genotyped primary ciliary dyskinesia individuals identify regional clusters of distinct DNA variants and significant genotype-phenotype correlations. Eur Respir J. 2024 Aug 8;64(2):2301769. doi: 10.1183/13993003.01769-2023. Print 2024 Aug.
- Shapiro AJ, Davis SD, Ferkol T, Dell SD, Rosenfeld M, Olivier KN, Sagel SD, Milla C, Zariwala MA, Wolf W, Carson JL, Hazucha MJ, Burns K, Robinson B, Knowles MR, Leigh MW; Genetic Disorders of Mucociliary Clearance Consortium. Laterality defects other than situs inversus totalis in primary ciliary dyskinesia: insights into situs ambiguus and heterotaxy. Chest. 2014 Nov;146(5):1176-1186. doi: 10.1378/chest.13-1704.
- Sutherland MJ, Ware SM. Disorders of left-right asymmetry: heterotaxy and situs inversus. Am J Med Genet C Semin Med Genet. 2009 Nov 15;151C(4):307-17. doi: 10.1002/ajmg.c.30228.
- Wee WB, Kinghorn B, Davis SD, Ferkol TW, Shapiro AJ. Primary Ciliary Dyskinesia. Pediatrics. 2024 Jun 1;153(6):e2023063064. doi: 10.1542/peds.2023-063064.
- Zariwala MA, Despotes KA, Davis SD. Primary Ciliary Dyskinesia. 2007 Jan 24 [updated 2025 May 22]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1122/
Participez à la conversation
Partagez vos pensées ou expériences avec les autres dans notre communautés de patients.
Demandez, partagez, connectez-vous.
Parcourez les discussions, posez des questions et partagez vos expériences sur des centaines de sujets de santé.
Inscrivez-vous à la newsletter Patient
Votre dose hebdomadaire de conseils de santé clairs et fiables - rédigés pour vous aider à vous sentir informé, confiant et maître de la situation.
En vous abonnant, vous acceptez notre Politique de confidentialité. Vous pouvez vous désabonner à tout moment. Nous ne vendons jamais vos données.