Karolina Raczkowska-Łabuda, *Lidia Zawadzka-Głos
Primary ciliary dyskinesia: how to diagnose, how to treat
Department of Pediatric Otolaryngology, Medical University of Warsaw, Poland
Head of Department: Lidia Zawadzka-Głos, MD, PhD
Summary
Characteristics of the syndrome. Underlining the diagnostic and therapeutic difficulties. PCD symptoms include ARDS at the age of early – infancy, recurrent lower respiratory tract infections, chronic rhinosinusitis and otitis media, or impaired fertility. PCD requires differentiation with atypical asthma, bronchiectasis and cystic fibrosis. Diagnostic algorithm consist of cascade of tests (brush cytology/bronchoscopic samples, cilia motility evaluation, function and structure assesment with electron microscopy, immunochemical testing, genetic testing) preceded by screening tests (saccharin, measurement nNO). 1. The primary ciliary dyskinesia is rarely taking under consideration in the differential diagnosis of chronic/recurrent upper respiratory tract infections. 2. Available screening tests do not include target group of patients (< 12 y.o.). 3. No recommendations for the type and methods of obtaining material for testing and methods of its transportation. 4. The basic diagnostic limitation is high cost of a conclusive tests. 5. There is necessity to differentiate primary and secondary ciliary dyskinesia. 6. No general algorithm running patients diagnosed with PCD – the mandatory introduction of standard therapy.
INTRODUCTION
Primary ciliary dyskinesia (PCD), also known as immotile cilia syndrome is a rare, genetically determined disease (predominantly inherited as an autosomal recessive) mostly interfering with upper and lower respiratory tract. It is associated in 40-50% with visceral situs inversus and other forms of heterotaxy (1). Symptoms of the disease directly result from impaired ciliary clearance.
Unfortunately disorders due to dysmotile cilia have been poorly studied in children. Therapeutic strategies are taken from the algorithms developed for the treatment of cystic fibrosis (CF). Lower requirement for more PCD research is the consequence.
DISCUSSION
CD is determined by a number of different genetic ciliary defects (tab. 1) that result in ineffective mucociliary clearance.
Table 1. Genes involved in primary ciliary dyskinesia (PCD). Based on (8).
| Gene | Locus | Defective structure | Phenotype |
| NAH5 | 5p15 | ODA | PCD + KS |
| DNAI1 | 9p21- p13 | ODA | PCD + KS |
| DNAH11 | 7p15.3- 21 | Normal | PCD + KS |
| TXNDC3 | 7p14.1 | ODA | KS |
| DNAI2 | 17q25.1 | ODA | PCD + KS |
| KTU | 14q21.3 | ODA+IDA | PCD + KS |
| RPGR | Xp21.1 | Variable | PCD with retinitis pigmentosa |
| OFD1 | Xp22 | Not known | PCD with mental retardation |
| RSPH9 | 6p21 | CP | PCD |
| RSPH4A | 6q22 | CP | PCD |
ODA – outer dynein arm, IDA – inner dynein arm, CP – central pair, KS – Kartagener’s syndrome
Most patients with PCD have symptoms since their birth or early infancy (2), but the diagnosis is usually postponed (3). Significant number of patients are never diagnosed (4). It seems likely (but stays unproven) that early diagnosis of PCD is important as deterioration in lung function can largely be prevented by specialist respiratory care (5).
Powyżej zamieściliśmy fragment artykułu, do którego możesz uzyskać pełny dostęp.
Mam kod dostępu
- Aby uzyskać płatny dostęp do pełnej treści powyższego artykułu albo wszystkich artykułów (w zależności od wybranej opcji), należy wprowadzić kod.
- Wprowadzając kod, akceptują Państwo treść Regulaminu oraz potwierdzają zapoznanie się z nim.
- Aby kupić kod proszę skorzystać z jednej z poniższych opcji.
Opcja #1
19 zł
Wybieram
- dostęp do tego artykułu
- dostęp na 7 dni
uzyskany kod musi być wprowadzony na stronie artykułu, do którego został wykupiony
Opcja #2
49 zł
Wybieram
- dostęp do tego i pozostałych ponad 7000 artykułów
- dostęp na 30 dni
- najpopularniejsza opcja
Opcja #3
119 zł
Wybieram
- dostęp do tego i pozostałych ponad 7000 artykułów
- dostęp na 90 dni
- oszczędzasz 28 zł
Piśmiennictwo
1. O’Callaghan C, Chilvers M, Hogg C et al.: Diagnosing primary ciliary dyskinesia. Thorax 2007; 62: 656-657. 2. Greenstone M, Rutman A, Dewar A et al.: Primary ciliary dyskinesia: cytological and clinical features. Q J Med 1988; 67: 405-423. 3. Noone PG, Leigh MW, Sannuti A et al.: Primary ciliary dyskinesia: diagnostic and phenotypic features. Am J Respir Crit Care Med 2004; 169: 459-467. 4. Bush A, Cole P, Hariri M et al.: Primary ciliary dyskinesia: diagnosis and standards of care. Eur Respir J 1998; 12: 982-988. 5. Ellerman A, Bisgaard H: Longitudinal study of lung function in a cohort of primary ciliary dyskinesia. Eur Respir J 1997; 10: 2376-2379. 6. Coren ME, Meeks M, Morrison I et al.: Primary ciliary dyskinesia: age at diagnosis and symptom history. Acta Paediatr 2002; 91: 667-669. 7. Ferkol T, Leigh M: Primary ciliary dyskinesia and newborn respiratory distress. Semin Perinatol 2006; 30: 335-340. 8. Barbato A, Frischer T, Kuehni CE et al.: Primary ciliary dyskinesia: a consensus statement on diagnostic and treatment approaches in children. ERJ 2009 Dec 1; 34(6): 1264-1276. 9. Marthin JK, Nielsen KG: Choice of nasal nitric oxide technique as first-line test for primary ciliary dyskinesia. ERJ 2011 Mar 1; 37(3): 559-565. 10. Wodehouse T, Kharitonov SA, Mackay IS et al.: Nasal nitric oxide measurements for the screening of primary ciliary dyskinesia. ERJ 2003 Jan 1; 21(1): 43-47. 11. Corbelli R, Bringolf-Isler B, Amacher A et al.: Nasal nitric oxide measurements to screen children for primary ciliary dyskinesia. Chest 2004; 126(4): 1054-1059. 12. Phillips GE, Thomas S, Heather S et al.: Airway response of children with primary ciliary dyskinesia to exercise and β2-agonist challenge. Eur Respir J 1998; 11: 1389-1391. 13. Balfour-Lynn IM, Lees B, Hall P et al.: Multicenter randomized controlled trial of withdrawal of inhaled corticosteroids in cystic fibrosis. Am J Respir Crit Care Med 2006; 173: 1356-1362. 14. Majithia A, Fong J, Hariri M et al.: Hearing outcomes in children with primary ciliary dyskinesia – a longitudinal study. Int J Pediatr Otorhinolaryngol 2005; 69: 1061-1064. 15. Hadfield PJ, Rowe-Jones JM, Bush A et al.: Treatment of otitis media with effusion in children with primary ciliary dyskinesia. Clin Otolaryngol Allied Sci 1997; 22: 302-306.
