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.
Keywords
About the Authors
V. A. StrelnikovaRussian Federation
Ul. Miklukho-Maklaya 6, Moscow, 117198. +7(499) 959-8800
Competing Interests:
none
A. G. Tsverava
Russian Federation
4th Dobryninsky per. 1/9, build. 1A, Moscow, 119049. Теl.: + 7 (495) 959-88-01
Competing Interests:
none
D. Yu. Ovsyannikov
Russian Federation
Ul. Miklukho-Maklaya 6, Moscow, 117198; 4th Dobryninsky per. 1/9, build. 1A, Moscow, 119049
Competing Interests:
none
E. K. Zhekaite
Russian Federation
Ul. Moskvorechye 1, Moscow, 115522
Competing Interests:
none
O. B. Kondakova
Russian Federation
Lomonosovsky prosp. 2, build. 1, Moscow, 119296
Competing Interests:
none
P. V. Berejansky
Russian Federation
4th Dobryninsky per. 1/9, build. 1A, Moscow, 119049
Competing Interests:
none
K. V. Savostyanov
Russian Federation
Lomonosovsky prosp. 2, build. 1, Moscow, 119296
Competing Interests:
none
V. V. Gorev
Russian Federation
4th Dobryninsky per. 1/9, build. 1A, Moscow, 119049
Competing Interests:
none
M. I. Airapetyan
Russian Federation
Ul. Trubetskaya 8, build. 2, Moscow, 119991
Competing Interests:
none
O. G. Topilin
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