Comparative characteristics of patients with primary ciliary dyskinesia with or without Kartagener’s syndrome
E. I. Kondratyeva,
S. N. Avdeev,
T. A. Kyian,
Z. M. Merzhoeva,
O. A. Karpova,
E. E. Bragina,
O. P. Ryzhkova,
V. M. Popova,
M. A. Starinova,
V. B. Chernykh https://doi.org/10.18093/0869-0189-2024-34-2-194-205
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.
Keywords
primary ciliary dyskinesia (PCD),
Kartagener syndrome,
electron microscopy,
gene variants,
axonemal abnormalities,
immotile cilia and flagella,
PICADAR scale
Supporting agencies: The study was carried out as part of the research project “Complex analysis of genophenotypic correlations in cystic fibrosis and primary ciliary dyskinesia” (registration number 122032300396-1)
About the Authors
E. I. Kondratyeva
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
Russian Federation
Russian Federation
Elena I. Kondratyeva, Doctor of Medicine, Professor, Head of the Scientific and Clinical Department of cystic fibrosis, Head of the Department of Genetics of Respiratory System Diseases, Institute of Higher and Additional Professional Education, Federal State Budgetary Scientific Institution “Research Centre for Medical Genetics”, Ministry of Science and Higher Education of the Russian Federation; Deputy Director for Research, State Budgetary Healthcare Institution of the Moscow region “Research Clinical Institute of Childhood”, Healthcare Ministry of Moscow Region
ul. Moskvorechye 1, Moscow, 115522,
ul. Kominterna 124A, build. 1, Moskovskaya obl., Mytishchi, 141009
S. N. Avdeev
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)
Russian Federation
Russian Federation
Sergey N. Avdeev, Doctor of Medicine, Professor, Academician of Russian Academy of Sciences, Director, National Medical Research Center for the profile “Pulmonology”, Head of the Department of Pulmonology, N.V. Sklifosovsky Institute of Clinical Medicine, 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); Chief Freelance Pulmonologist of the Ministry of Health of the Russian Federation
ul. Trubetskaya 8, build. 2, Moscow, 119991
T. A. Kyian
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
Russian Federation
Russian Federation
Tatiana A. Kyian, Candidate of Medicine, Senior Researcher, Scientific and Clinical Department of Cystic Fibrosis, Federal State Budgetary Scientific Institution “Research Centre for Medical Genetics”, Ministry of Science and Higher Education of the Russian Federation; Senior Researcher, Federal State Budgetary Scientific Institution “Research Centre for Medical Genetics”, Ministry of Science and Higher Education of the Russian Federation; Head of the Cystic Fibrosis Center, State Budgetary Healthcare Institution of the Moscow region “Resea
ul. Moskvorechye 1, Moscow, 115522,
ul. Kominterna 124A, build. 1, Moskovskaya obl., Mytishchi, 141009
Scopus ID: 57205414678
Z. M. Merzhoeva
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
Russian Federation
Russian Federation
Zamira M. Merzhoeva, Candidate of Medicine, Assistant, Department of Pulmonology, 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); Researcher, Federal State Budgetary Institution “Pulmonology Scientific Research Institute” under Federal Medical and Biological Agency of Russian Federation
ul. Trubetskaya 8, build. 2, Moscow, 119991,
Orekhovyy bul’var 28, Moscow, 115682
O. A. Karpova
The State Autonomous Healthcare Institution “Children’s Republican Clinical Hospital of the Ministry of Health of the Republic of Tatarstan”
Russian Federation
Russian Federation
Olga A. Karpova, Candidate of Medicine, Pediatrician, Pulmonologist, Head of Pulmonology Department
ul. Orenburgskiy trakt 140, Republic of Tatarstan, Kazan’, 420138
E. E. Bragina
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
Russian Federation
Russian Federation
Elizaveta E. Bragina, Doctor of Biology, Senior Researcher, Department of Electron Microscopy, The A.N.Belozersky Institute оf Physico-Chemical Biology, Federal State Budget Educational Institution of Higher Education M.V.Lomonosov Moscow State University, The Government of the Russian Federation; Leading Researcher, Laboratory of genetics of reproductive disorders, Federal State Budgetary Scientific Institution “Research Centre for Medical Genetics”, Ministry of Science and Higher Education of the Russian Federation
ul. Moskvorechye 1, Moscow, 115522,
Leninskye gory 1, build. 40, Moscow, 119992
O. P. Ryzhkova
Federal State Budgetary Scientific Institution “Research Centre for Medical Genetics”, Ministry of Science and Higher Education of the Russian Federation
Russian Federation
Russian Federation
Oxana P. Ryzhkova, Candidate of Medicine, Senior Researcher, Head of the Center for Collective Use “Genome”
ul. Moskvorechye 1, Moscow, 115522
V. M. Popova
Federal State Budgetary Scientific Institution “Research Centre for Medical Genetics”, Ministry of Science and Higher Education of the Russian Federation
Russian Federation
Russian Federation
Veronika M. Popova, Research Assistant, Department of Cystic Fibrosis
ul. Moskvorechye 1, Moscow, 115522
M. A. Starinova
Federal State Budgetary Scientific Institution “Research Centre for Medical Genetics”, Ministry of Science and Higher Education of the Russian Federation
Russian Federation
Russian Federation
Marina A. Starinova, Researcher, Scientific and Clinical Department of Cystic Fibrosis
ul. Moskvorechye 1, Moscow, 115522
V. B. Chernykh
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
Russian Federation
Russian Federation
Vyacheslav B. Chernykh, Doctor of Medicine, Head of the Laboratory of Genetics of Reproductive Disorders, Professor of the Department of Endocrine Diseases, Institute of Higher and Further Professional Education, Federal State Budgetary Scientific Institution “Research Centre for Medical Genetics”, Ministry of Science and Higher Education of the Russian Federation; Professor, Department of General and Medical Genetics, Faculty of Medical Biology, 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
ul. Moskvorechye 1, Moscow, 115522,
ul. Ostrovityanova 1, Moscow, 117997
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Kondratyeva E.I., Avdeev S.N., Kyian T.A., Merzhoeva Z.M., Karpova O.A., Bragina E.E., Ryzhkova O.P., Popova V.M., Starinova M.A., Chernykh V.B. Comparative characteristics of patients with primary ciliary dyskinesia with or without Kartagener’s syndrome. PULMONOLOGIYA. 2024;34(2):194-205. (In Russ.) https://doi.org/10.18093/0869-0189-2024-34-2-194-205
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