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Primary ciliary dyskinesia in a child with type II Simpson -Golabi - Bemel syndrome due to OFD1 gene mutation

https://doi.org/10.18093/0869-0189-2023-33-2-259-265

Abstract

Primary ciliary dyskinesia (PCD) is an orphan disease associated with mutations in several genes. It is a ciliopathy, an abnormality of the cilia and flagella. Ciliopathies include the extremely rare Simpson - Golabi - Bemel syndrome (SSGB) type II.

The aim of this article is to familiarize the reader with the possibility of simultaneous presence of type II SSGB and PCD in a patient with bronchiectasis (BE).

Results. The first clinical observation in the Russian literature is presented withhistory, physical examination, including clinical and morphologic examination, results of additional investigations and initiation of therapy. The case describes a 15-year-old patient with BE and other lesions typical of PCD confirmed on the basis of structural changes in the cilia of the respiratory epithelium of the trachea detected by transmission electron microscopy. The patient had a pathogenic mutation of the OFD1 gene responsible for the development of both type II SSGB and PCD.

Conclusion. Several variants of ciliopathies may occur in one patient, and PCD may present as a syndrome.

About the Authors

V. A. Strelnikova
Federal State Autonomous Educational Institution of Higher Education “Peoples’ Friendship University of Russia” of the Ministry of Science and Higher Education of the Russian Federation
Russian Federation

 

Ul. Miklukho-Maklaya 6, Moscow, 117198. +7(499) 959-8800


Competing Interests:

none



A. G. Tsverava
State Budgetary Healtheare Institution “Morozov Children’s City Clinical Hospital”, Moscow City Health Department
Russian Federation

 

4th Dobryninsky per. 1/9, build. 1A, Moscow, 119049. Теl.: + 7 (495) 959-88-01


Competing Interests:

none



D. Yu. Ovsyannikov
Federal State Autonomous Educational Institution of Higher Education “Peoples’ Friendship University of Russia” of the Ministry of Science and Higher Education of the Russian Federation; State Budgetary Healtheare Institution “Morozov Children’s City Clinical Hospital”, Moscow City Health Department
Russian Federation

Ul. Miklukho-Maklaya 6, Moscow, 117198; 4th Dobryninsky per. 1/9, build. 1A, Moscow, 119049


Competing Interests:

none



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

Ul. Moskvorechye 1, Moscow, 115522


Competing Interests:

none



O. B. Kondakova
Federal State Autonomous Institution “National Medical Research Center for Children’s Health”, Ministry of Health of the Russian Federation
Russian Federation

Lomonosovsky prosp. 2, build. 1, Moscow, 119296


Competing Interests:

none



P. V. Berejansky
State Budgetary Healtheare Institution “Morozov Children’s City Clinical Hospital”, Moscow City Health Department
Russian Federation

4th Dobryninsky per. 1/9, build. 1A, Moscow, 119049


Competing Interests:

none



K. V. Savostyanov
Federal State Autonomous Institution “National Medical Research Center for Children’s Health”, Ministry of Health of the Russian Federation
Russian Federation

Lomonosovsky prosp. 2, build. 1, Moscow, 119296


Competing Interests:

none



V. V. Gorev
State Budgetary Healtheare Institution “Morozov Children’s City Clinical Hospital”, Moscow City Health Department
Russian Federation

4th Dobryninsky per. 1/9, build. 1A, Moscow, 119049


Competing Interests:

none



M. I. Airapetyan
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

Ul. Trubetskaya 8, build. 2, Moscow, 119991


Competing Interests:

none



O. G. Topilin
State Budgetary Healtheare Institution “Morozov Children’s City Clinical Hospital”, Moscow City Health Department
Russian Federation

4th Dobryninsky per. 1/9, build. 1A, Moscow, 119049


Competing Interests:

none



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Supplementary files

Review

For citations:


Strelnikova V.A., Tsverava A.G., Ovsyannikov D.Yu., Zhekaite E.K., Kondakova O.B., Berejansky P.V., Savostyanov K.V., Gorev V.V., Airapetyan M.I., Topilin O.G. Primary ciliary dyskinesia in a child with type II Simpson -Golabi - Bemel syndrome due to OFD1 gene mutation. PULMONOLOGIYA. 2023;33(2):259-265. (In Russ.) https://doi.org/10.18093/0869-0189-2023-33-2-259-265

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ISSN 0869-0189 (Print)
ISSN 2541-9617 (Online)