Comparative characteristics of patients with primary ciliary dyskinesia with or without Kartagener’s syndrome-Reference-Cited by-同舟云学术

Comparative characteristics of patients with primary ciliary dyskinesia with or without Kartagener’s syndrome

Published:2024-03-22 Issue:2 Volume:34 Page:194-205
ISSN:2541-9617
Container-title:PULMONOLOGIYA
language:
Short-container-title:Pulʹmonologiâ (Mosk.)

Author:

Kondratyeva E. I.¹^ORCID,Avdeev S. N.²^ORCID,Kyian T. A.¹^ORCID,Merzhoeva Z. M.³^ORCID,Karpova O. A.⁴^ORCID,Bragina E. E.⁵^ORCID,Ryzhkova O. P.⁶^ORCID,Popova V. M.⁶^ORCID,Starinova M. A.⁶,Chernykh V. B.⁷^ORCID

Affiliation:

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

2. Federal State Autonomous Educational Institution of Higher Education I.M.Sechenov First Moscow State Medical University of the Ministry of Health of the Russian Federation (Sechenov University)

3. Federal State Autonomous Educational Institution of Higher Education I.M.Sechenov First Moscow State Medical University of the Ministry of Health of the Russian Federation (Sechenov University); Federal State Budgetary Institution “Pulmonology Scientific Research Institute” under Federal Medical and Biological Agency of Russian Federation

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

5. 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, The Government of the Russian Federation

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

7. Federal State Budgetary Scientific Institution “Research Centre for Medical Genetics”, Ministry of Science and Higher Education of the Russian Federation; Federal State Autonomous Educational Institution of Higher Education “N.I.Pirogov Russian National Research Medical University” of the Ministry of Health of the Russian Federation

Abstract

Primary ciliary dyskinesia (PCD) is a rare hereditary disease, a ciliopathy that is based on a defect in the ultrastructure of the cilia of the epithelium of the respiratory tract and similar structures. All parts of the respiratory tract are affected. About half of the patients with PCD have transposition of the internal organs (Kartagener syndrome – KS).The aim was to investigate the clinical and genetic characteristics of patients with PCD with and without KS.Methods. An assessment of clinical and genetic characteristics was performed in a sample of 127 patients with PCD, who were divided into 2 groups: patients with KS (n = 60) and without KS (n = 67). The groups were compared on the basis of their medical history (according to the PICADAR scale), clinical, instrumental and laboratory data, including the results of light and video microscopy, transmission electron microscopy (TEM) and genetic testing.Results. According to the results of comparative characterization of patients with PCD with and without KS, there were similarities in the medical history, decreased lung function indices, videomicroscopy results – ciliated epithelium beating below 6 Hz, TEM – predominance of dynein arm defect. The PICADAR score was higher in the group with KS than in the group without it; congenital heart defects and renal pathology were found more frequently in patients with KS, while hearing loss and nasal polyposis were found more frequently in patients without KS. Electron microscopy revealed defects in the outer and inner dynein arms of the cilia in 50% of patients in both groups, and a tendency to lack of the central pair of microtubules in 18% of patients without KS. The following genes responsible for PCD were found in both groups: DNAH5, CFAP300 and HYDIN. DNAH5 gene variants were more common for KS patients (61.1%), while HYDIN gene variants were only found in patients with PCD without KS (15.8%).Conclusion. The identified differences may help in the diagnosis of the groups studied.

Publisher

Scientific and Practical Reviewed Journal Pulmonology

Reference22 articles.

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