Primary ciliary dyskinesia: modern approaches to the diagnostics and treatment
https://doi.org/10.21508/1027-4065-2019-64-5-123-133
Abstract
Primary Ciliary Dyskinesia is an orphane disease from the group of ciliopathies based on genetically determined defect in the structure of the motor cilia of the epithelium of the respiratory system and similar structures. Pathology belongs to the group of autosomal recessive phenotypes with pronounced genetic heterogeneity. It is clinically characterized by a progressive inflammatory lesion of all parts of the respiratory tract in children, a decrease in fertile function in older patients; defects of lateralization and malformations of organs are often observed. Despite a vivid clinical picture, the disease is not always timely diagnosed, which leads to a rapid decrease in pulmonary function, often to unnecessary surgical interventions. The purpose of this article is to familiarize a wide range of pediatricians and pulmonologists with modern methods of diagnostics and therapy of primary ciliary dyskinesia.
About the Authors
A. E. Bogorad
Veltischev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical University
Russian Federation
Moscow
Russian Federation
Moscow
S. E. Diakova
Veltischev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical University
Russian Federation
Moscow
Russian Federation
Moscow
Yu. L. Mizernitsky
Veltischev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical University
Russian Federation
Moscow
Russian Federation
Moscow
References
1. Afzelius B.A., Mossberg B., Bergstrom S.E. Immotile cilia syndrome ( primary ciliary dyskinesia), including Kartagener syndrome. In: Scriver C.R., Beaudet A.L., Sly W.S., Valle D., Childs B., Kinzler K.W., Vogelstein B., eds. The Metabolic and Molecular Basis of Inherited Disease. New York, NY: McGraw-Hill, 2001; 4817–4827.
2. Knowles M.R., Daniels L.A., Davis S.D., Zariwala M.A., Leigh M.W. Primary ciliary dyskinesia: recent advances in diagnostics, genetics, and characterization of clinical disease. Am J Respir Crit Care Med 2013a; 188: 913–922. DOI: 10.1164/rccm.201301-0059CI
3. Kuehni C.E, Lucas J.S. Diagnosis of primary ciliary dyskinesia: summary of the ERS Task Force report. Breathe (Sheff). 2017;13(3):166–178. DOI:10.1183/20734735.008517
4. Shapiro A.J., Zariwala M.A., Ferkol T., Davis S.D., Sagel S.D., Dell S.D. et al. Genetic Disorders of Mucociliary Clearance Consortium. Diagnosis, monitoring, and treatment of primary ciliary dyskinesia: PCD foundation consensus recommendations based on state of the art review. Pediatr Pulmonol 2016; 51(2): 115–132. DOI: 10.1002/ppul.23304
5. Zariwala M.A., Knowles M.R., Leigh M.W. Primary Ciliary Dyskinesia. https://www.ncbi.nlm.nih.gov/books/NBK1122/
6. Werner C., Onnebrink J.G., Omran H. Diagnosis and management of primary ciliary dyskinesia. Cilia 2015; 4(1): 2. DOI: 10.1186/s13630-014-0011-8
7. Badano J.L., Mitsuma N., Beales P.L., Katsanis N. The ciliopathies: an emerging class of human genetic disorders. Annu Rev Genomics Hum Genet 2006; 7: 125–148. DOI: 10.1146/annurev.genom.7.080505.115610
8. Ibañez-Tallon I., Heintz N., Omran H. To beat or not to beat: roles of cilia in development and disease. Hum Mol Genet 2003; 2(R1): 27–35.
9. Kurkowiak M., Zietkiewicz E., Witt M. Recent advances in primary ciliary dyskinesia genetics. J Med Genet 2015; 52 (10): 1–9. DOI: 10.1136/jmedgenet-2014-1027559.
10. Mu W., Lu H.M., Chen J., Li S., Elliott A.M. Sanger confirmation is required to achieve optimal sensitivity and specificity in next-generation sequencing panel testing. J Mol Diagn 2016; 18(6): 923–932.
11. Lucas J., Burgess A., Mitchison H.M., Williamson M., Hogg C. National PCD Service, UK. Diagnosis and management of primary ciliary dyskinesia. Arch Dis Child 2014; 99: 850–856. DOI: 10.1136/archdischild-2013-304831
12. Stannard W., O’Callaghan C. Ciliary function and the role of cilia in clearance. J Aerosol Med 2006; 19: 110–115.
13. Розинова Н.Н., Богорад А.Е. Синдром Картагенера у де- тей. М.: Династия, 2007; 80. [Rozinova N.N., Bogorad A.E. Kartagenera syndrome in children. M.: Dinastiya, 2007; 80 (in Russ.)]
14. Kuehni C.E., Lucas J.S. Diagnosis of primary ciliary dyskinesia: summary of ERS Task Force report. Breathe 2017; 13(3): 166-178. DOI: 10.1183/20734735.008517
15. Collins S.A., Gove K., Walker W., Lucas J.S. Nasal nitric oxide screening for primary ciliary dyskinesia: systematic review and meta-analysis. ERJ 2014; 6(44): 1589–1599. DOI: 10.1183/09031936.00088614
16. Каганов С.Ю., Розинова Н.Н., Керимов М.Б. Клинические варианты синдрома Картагенера у детей. Пульмонология 1991; 2: 20–25. [Kaganov S.Yu., Rozinova N.N., Kerimov M.B. Clinical variants of Cartagener syndrome in children. Pul’monologiya (Russian Pulmonology) 1991; 2: 20–25 (in Russ.)]
17. Noone P.G., Leigh M.W., Sannuti A., Minnix S.L., Carson J.L., Hazucha M. et al. Primary ciliary dyskinesia: diagnostic and phenotypic features. Am J Respir Crit Care Med 2004; 169(4): 459–467. DOI: 10.1164/rccm.200303-365OC
18. Brown D.E., Pittman J.E., Leigh M.W., Forham L., Davis S.D. Early lung disease in young children with primary ciliary dyskinesia. Pediatr Pulmonol 2008; 43: 514–516. DOI: 10.1002/ppul.20792
19. Djakow J., O’Callaghan C. Primary ciliary dyskinesia. Breathe 2014; 10: 122–133. DOI: 10.1183/20734735.007413
20. Shapiro A.J., Davis S.D., Ferkol T., Dell S.D., Rosenfeld M., Olivier K.N. et al. Laterality defects other than situs inversus totalis in primary ciliary dyskinesia: insights into situs ambiguus and heterotaxy. Chest 2014; 146(5): 1176–1186. DOI: 10.1378/chest.13-1704
21. Bush A., Chodhari R., Collins N., Copeland F., Hall P., Harcourt J. et al. Primary ciliary dyskinesia: current state of the art. Arch Dis Child 2007; 92: 1136–1140. DOI: 10.1136/adc.2006.096958
22. Damseh N., Quercia N., Rumman N., Dell S.D., Kim R.H. Primary ciliary dyskinesia: mechanisms and management. Appl Clin Genet 2017; 10: 67–74. DOI: 10.2147/TACG.S127129
23. Розинова Н.Н., Сухоруков В.С., Мизерницкий Ю.Л., Ружицкая Е.А., Смирнова М.О., Захаров П.П. Диагностика цилиарной дискинезии с использованием фазово-контрастной и компьютеризированной световой микроскопии. Пульмонология детского возраста: проблемы и решения. Вып. 9. М., 2009; 72–77. [Rozinova N.N., Sukhorukov V.S., Mizernitsky Yu.L., Ruzhitskaya E.A., Smirnova M.O., Zakharov P.P. Diagnosis of ciliary dyskinesia using phase-contrast and computerized light microscopy. Pul’monologiya detskogo vozrasta: problemy i resheniya. M., 2009; 9: 72–77 (in Russ.)]
24. Баранов А.А., Намазова-Баранова Л.С., Вишнева Е.А., Селимзянова Л.Р. Первичная цилиарная дискинезия у детей. Педиатрическая фармакология 2018; 15 (1): 20–31. [Baranov A.A., Namazova-Baranova L.S., Vishneva E.A., Selimzyanova L.R. Primary ciliary dyskinesia in children. Pediatricheskaya farmakologiya (Pediatric Pharmacology) 2018; 15 (1): 20–31 (in Russ.)] DOI: 10.15690/pf.v15i1.1840
25. Капранов Н.И., Кондратьева Е.И., Каширская Н.Ю. Проект национального консенсуса «Муковисцидоз: определение, диагностические критерии, терапия». Раздел «Антимикробная терапия» (печатается с сокращениями). Педиатрия. Журнал им. Г.Н. Сперанского 2014; 93(4): 107–123. [Kapranov N.I., Kondratieva E.I., Kashirskaya N.Yu. Draft national consensus «Сystic fibrosis: definition, diagnostic criteria, therapy”. Section « Antimicrobial Therapy» (printed in abbreviations). Pediatriya. Zhurnal im. G.N. Speranskogo ( Pediatria. Journal named after G.N. Speransky) 2014; 93 (4): 107–123 (in Russ.)]
26. Kobbernagel H.E., Buchvald F.F., Haarman E.G., Casaulta C., Collins S.A., Hogg C. et al. Study protocol rationale and recruitment in a European multi-centre randomized controlled trial to determine the efficacy and safety of azithromycin maintenance therapy for 6 months in primary ciliary dyskinesia. BMC Pulm Med 2016; 16: 104. DOI: 10.1186/s12890-016-0261-x
27. Sha Y.W., Ding L., Li P. Management of primary ciliary dyskinesia/ Kartagener’s syndrome in infertile male patients and current progress in defining the underlying genetic mechanism. Asian J Androl 2014; 16: 101–106. DOI: 10.4103/1008-682X.122192
Review
For citations:
Bogorad A.E., Diakova S.E., Mizernitsky Yu.L. Primary ciliary dyskinesia: modern approaches to the diagnostics and treatment. Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics). 2019;64(5):123-133. (In Russ.) https://doi.org/10.21508/1027-4065-2019-64-5-123-133
Views:
6809
Email this article 