Introduction
Primary ciliary dyskinesia is an inherited disease in which cilia located in respiratory tissue or gonadal tissue, etc., malfunction. The key difference between primary and secondary ciliary dyskinesias is that secondary is caused by infection or inflammation, there is no Genetic Explanation [1] [2].
We can distinguish three types of primary ciliary dyskinesias [1]:
- Motionless respiratory cilia.
- Ineffective ciliary movement.
- Absence of cilia (ciliogenesis) This is the least common type.
Among the different types of respiratory cilia, motile cilia are our body’s most important defense mechanism – mucociliary clearance. They perform an oscillatory motion that cleans and clears the airways of secretions [3].
[4]
Clinical presentation
Among the main manifestations of primary ciliary dyskinesias we find [2]:
- Recurrent respiratory infections, often complicated by bronchiectasis in older age.
- Chronic sinusitis
- Ear infections
- Infertility in male patients
- Pectus Excavatum
- Situs inversus (a rare heart disease characterized by abnormal heart position) is found in about 60% of patients and can help with diagnosis.
Most symptoms are chronic on a daily basis and begin at an early age. Unfortunately, most of the signs and symptoms of the disease are very common in healthy children, which is why the diagnosis is made at an older age [2].
Medical treatment
There is currently no specific treatment for primary ciliary dyskinesias, although the two have very different genetic and pathophysiological defects and respond to treatment, similar approaches are used to treat cystic fibrosis [5].
[6]
In general, treatment will be based on airway drainage to prevent infection and treatment of airway sinus and middle ear infections [5].
With medical therapy, it is important to treat any changes in respiratory symptoms. The pathogen must be treated early to prevent colonization in both airways that typically follow the regimen used in cystic fibrosis. We can emphasize antibiotic therapy Bronchodilators and mucolytics, but severe bronchiectasis with repeated infection or severe hemoptysis may consider lung resection [7].
Physiotherapy treatment
The main purpose is to keep the airway free of secretions to avoid respiratory infections while improving the patient’s lung function. Experts recommend 20-minute sessions twice a day, increasing the number of sessions when breathing worsens [8].
Speaking of manual techniques for airway cleaning, we can emphasize [9]:
- ETGOL (slow exhalation, glottis open in lateral position).
- Autogenic Drainage.
- Forced expirations (“huff cough”).
Among the manual techniques we could also include percussive chest vibration and postural drainage, but their use has been rejected due to their possible adverse effects and is limited to uncooperative patients [9].
Talking about instrumentation techniques, we can include PEP (Positive Expiratory Pressure) equipment [9]:
- Oscillating positive expiratory pressure devices such as Flutter® Acapella® and Cornet®.
- No oscillating positive expiratory pressure devices such as TheraPEP® y PiPEP®.
These techniques help drain secretions from the airways, increase ventilation, optimize airflow, and direct airflow through the collateral airways. A physical therapist must determine which technique is best for each patient. In addition, physical activity is recommended Patients with this condition can improve the strength of their respiratory muscles and help maintain lung health [10].
References
- ↑ Jump up to:1.0 1.1 Afzelius BA, Stenram U. Prevalence and genetics of immotile-cilia syndrome and left-handedness. Int J Dev Biol. 2006;50(6):571-573.
- ↑ Jump up to:2.0 2.1 2.2 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
- ↑ Jump up to:5.0 5.1 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.
- ↑ Jump up to:9.0 9.1 9.2 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.
