Characteristics of patients with primary ciliary dyskinesia-Reference-Cited by-同舟云学术

Characteristics of patients with primary ciliary dyskinesia

Published:2023-04-13 Issue:2 Volume:33 Page:198-209
ISSN:2541-9617
Container-title:PULMONOLOGIYA
language:
Short-container-title:Pulʹmonologiâ (Mosk.)

Author:

Nikolaeva E. D.¹^ORCID,Ovsyannikov D. Yu.²^ORCID,Strel’nikova V. A.²^ORCID,Polyakov D. P.³^ORCID,Tronza T. V.⁴^ORCID,Karpova O. A.⁵^ORCID,Fatkhullina I. R.⁶^ORCID,Bragina Е. E.⁷^ORCID,Shchagina O. A.¹^ORCID,Starinova M. A.¹,Krasovskiy S. А.¹^ORCID,Kyian T. A.⁶,Zhekaite E. K.⁶^ORCID

Affiliation:

1. Federal State Budgetary Scientific Institution “Research Centre for Medical Genetics”, Ministry of Science and Higher Education of the Russian Federation

2. The Peoples’ Friendship University, Ministry of Science and higher Education of Russia

3. Pirogov Russian National Research Medical University (Pirogov Medical University), Ministry of Health of the Russian Federation; National Medical Research Center of Otorhinolaryngology, Federal Medical and Biological Agency of Russia

4. Federal Budgetary Institution of Science “Central Research Institute of Epidemiology”, Federal Service for Supervision of Consumer Rights Protection and Human Welfare

5. State Autonomous Health Institution “Children’s Republican Clinical Hospital of the Ministry of Health of the Republic of Tatarstan”

6. Federal State Budgetary Scientific Institution “Research Centre for Medical Genetics”, Ministry of Science and Higher Education of the Russian Federation; State budgetary healthcare institution Moscow region “Research Clinical Institute of Childhood”, Ministry of Health of the Moscow Region

7. Federal State Budgetary Scientific Institution “Research Centre for Medical Genetics”, Ministry of Science and Higher Education of the Russian Federation; Federal State Budget Educational Institution of Higher Education M.V.Lomonosov Moscow State University

Abstract

Primary ciliary dyskinesia (PCD) (Online Mendelian Inheritance in Man - OMIM - #242650) is a rare hereditary disease, which is based on a defect in the ultrastructure of the cilia epithelium of the respiratory tract which leads to the motor function disorder. Data about health characteristics of patients with PCD in the Russian Federation are incomplete.The aim of the study was to investigate the clinical, laboratory, and instrumental characteristics of patients with PCD.Methods. The data of 90 patients (22 adults (24.4%) and 68 children (75.6%)) from several medical centers were studied. The following methods were used: medical history, spirometry, microbiological examination of the respiratory tract, video microscopic analysis of the functional activity of the nasal mucosa ciliated epithelium, transmission electron microscopy of the ciliated epithelium, and DNA testing.Results. The median age at diagnosis was 17.0 years for adults and 5.0 years for children. Kartagener syndrome was detected in 23 (27%) people, including 6 (26.0%) adults. Hearing loss was noted in 5 (26.3%) adult patients and 15 (26.8%) children. Light microscopy of the ciliated epithelium was performed in 14 (82.3%) children and 3 (17.7%) adults. In 12 patients, cilia motor activity was not registered at each of the magnifications (x 100, x 400, x 1,000). Transmission electron microscopy showed that absence ofinternal and external dynein handles (51%) and absence of internal dynein handles (17.9%) were the most common disorders. DNA testing was performed in 55 (61.2%) patients: 16 (29.1%) adults and 38 (70.9%) children. The most common genetic variants were found in the DNAH5 and HYDIN genes. Lung function was reduced in both adults and children, but a significant decrease was noted in adult patients. P. aeruginosa predominated in the culture and accounted for 21.3% (intermittent detection in 13.2%, persistent detection in 9%). It has increased resistance to antibiotics.Conclusion. The results correlate with the European data. Infection caused by P. aeruginosa with the increased resistance to antibiotics was prevalent in patienths with PCD.

Publisher

Scientific and Practical Reviewed Journal Pulmonology

Subject

Pulmonary and Respiratory Medicine

Reference25 articles.

1. Novak A.A., Mizernitskiy Y.L. [Primary ciliary dyskinesia: state of the problem and prospects]. Meditsinskiy Sovet. 2021; (1): 276-285. DOI: 10.21518/2079-701X-2021-1-276-285.

2. Bogorad A.E., D’yakova S.E., Mizernitskiy Yu.L. [Primary ciliary dyskinesia: modern approaches to diagnosis and therapy]. Rossi-yskiy vestnikperinatologii ipediatrii. 2019; 64 (5): 123-133. DOI: 10.21508/1027-4065-2019-64-5-123-133 (in Russian).

3. Knowles M.R., Daniels L.A., Davis S.D. et al. Primary ciliary dyskinesia: recent advances in diagnostics, genetics, and characterization of clinical disease. Am. J. Respir. Crit. Care Med. 2013; 188 (8): 913-922. DOI: 10.1164/rccm.201301-0059CI.

4. 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.

5. Zariwala M.A., Knowles M.R., Leigh M.W. Primary ciliary dyskinesia. [Updated: 2019]. In: Adam M.P., Everman D.B., Mirzaa G.M. et al., eds. GeneReviews® [Internet]. Seattle (WA): University of Washington; 1993-2023. Available at: https://www.ncbi.nlm.nih.gov/books/NBK1122/

Cited by 2 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Classification of primary ciliary dyskinesia;PULMONOLOGIYA;2023-12-11

2. A clinical case of primary ciliary dyskinesia in a child under one year old with a pathogenic genetic variant of the DNAH5 gene described for the first time;Archives of Pediatrics and Pediatric Surgery;2023-10-09