Primary Ciliary Dyskinesia
Introduction[edit | edit source]
Primary ciliary dyskinesia is an hereditary illness in which there is a dysfunction of the cilia located in the respiratory tissue or gonadal tissue among other. The main difference between primary and secondary ciliary dyskinesia is that secondary is caused by an infection or inflammation without a genetic explanation.
We can distinguish three types of primary ciliary dyskinesia:
- Motionless respiratory cilia.
- Ineffective ciliary movement.
- Cilia absent (ciliary aplasia) this is the least frequent type.
Among the different types of respiratory cilia the mobile cilia make the most important defense mechanism of our body, the mucociliary clearance. They carry out an oscillatory movement which allows the cleaning and the elimination of secretions in the airway.
Clinical presentation[edit | edit source]
Among the main manifestations of primary ciliary dyskinesia we find:
- Recurrent respiratory infections, which are usually complicated by bronchiectasis at older ages.
- Chronic sinusitis
- Ear infections
- Infertility in male patients
- Pectus Excavatum
- Situs inversus (rare heart condition characterized by abnormal positioning of the heart) this anomaly is found in approximately 60% of patients, facilitating the diagnosis.
Most of the symptoms are chronic, on a daily basis and start at very early ages. Unfortunately, most of the symptoms and signs of the disease are very common in healthy children, and this is why the diagnosis is made at older age.
Medical treatment[edit | edit source]
Currently there are no specific treatment for the primary ciliary dyskinesia and a similar approach for the Cystic Fibrosis is used, despite the fact that the genetic and pathophysiological defects and the response to treatment between the two of them are very different.
In general terms, the treatment will be based on the drainage of the airway, prevention of infections and treatment of infections of the airways, paranasal sinuses and middle ear.
for the medical treatment it is important to treat any change in respiratory symptoms. Pathogens must be treated as early as possible to prevent colonization in both airways, for which the protocols used in Cystic Fibrosis are usually followed. We can highlight treatments with antibiotics, bronchodilators and mucolytics but patients with severe bronchiectasis, recurrent infections, or those with severe hemoptysis can consider lung resection.
Physiotherapy treatment[edit | edit source]
The main objective is to keep the airway free of secretions to avoid respiratory infections and also improving the patient's lung function. The experts recommend 20 minutes sessions twice a day, increasing sessions when there are respiratory exacerbations.
Talking about manual technique for airway cleaning we can highlight:
- ETGOL (slow expiration with glottis opened in lateral posture).
- Autogenic Drainage.
- Forced expirations ("huff cough").
Among the manual techniques, we can also include percussion, thoracic vibrations and postural drainage, but due to its possible adverse effects, its use has been rejected, limiting itself to non-cooperative patients.
- Oscillating positive expiratory pressure devices such as Flutter®, Acapella® and Cornet®.
- No oscillating positive expiratory pressure devices such as TheraPEP® y PiPEP®.
These techniques facilitate the drainage of secretions from the airways, increase the ventilation, optimize airflow and also let the airflow through colateral airways. The physiotherapist must determine which technique is best suited for each patient. Also physical exercise is also recommended in patients with this pathology to improve the strength of the respiratory muscles, and help maintain lung health.
References[edit | edit source]
- Afzelius BA, Stenram U. Prevalence and genetics of immotile-cilia syndrome and left-handedness. Int J Dev Biol. 2006;50(6):571-573.
- Mirra V, Werner C, Santamaria F. Primary Ciliary Dyskinesia: An Update on Clinical Aspects, Genetics, Diagnosis, and Future Treatment Strategies. Front. Pediatr. 2017;5(135):1-13.
- Knowles MR, Daniels LA, Davis SD, Zariwala MA, Leigh MW. Primary ciliary dyskinesia. Recent advances in diagnostics, genetics, and characterization of clinical disease. Am J Respir Crit Care Med. 2013;188(8):913–22
- Dr Harrison.Kartagener syndrome| Primary Ciliary Dyskinesia| Immotile cilia syndrome| triad mnemonic & cause.Available from: https://www.youtube.com/watch?v=juElu0CUINA
- Trujillo Zea JA, McEwewn Tamayo OI, Hincapié Pineda JA, Faraco Urrega FJ, Vélez Trujillo JA. Disquinesia ciliar primaria. Reporte de un caso. Medicina UPB.2007;26(2):145-152.
- NeedToKnowMedicine.What is the difference between Cystic Fibrosis and Primary Ciliary Dyskinesia? (pathophysiology).Available from: https://www.youtube.com/watch?v=127HTrUcA6A
- Ellerman A, Bisgaard H. Longitudinal study of lung function in a cohort of primary ciliary dyskinesia. Eur Respir J. 1997;10(10):2376-2379.
- Romero Rubio MT, Rovira Amigo S, Caballero Rabasco MA. Manejo del paciente afecto de discinesia ciliar primaria. 2017;1:423-438.
- Martí Romeu JD, Vendrell Relat M. [coordinadores]. Técnicas manuales e instrumentales para el drenaje de secreciones bronquiales en el adulto. Barcelona: Respira;2013.
- Schofield LM, Duff A, Brennan C. Airway Clearance Techniques for Primary Ciliary Dyskinesia ; is the Cystic Fibrosis literature portable ? Paediatr Respir Rev. 2018;25:73-77.