Primary ciliary dyskinesia: in search of a “gold standard” diagnosis

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Abstract

Objective. Identification of genetic variants characteristic of children with primary ciliary dyskinesia (PCD) in the Russian population and determination of predictors of early diagnosis of the disease.

Materials and methods. The study was carried out on the basis of the department of chronic, inflammatory and allergic lung diseases of the Institute of Veltischev. 100 children were included in the study, 90 of them with identified genetic variants causing the course of PCD according to NGS study of the complete genome.

Results. Genes with variants associated with PCD in children of the Russian population were identified. The most frequent defects in the genes: DNAH5, DNAH11, HYDIN, DRC1, ODAD1, CCDC40. Predictors of the course of the disease have been identified to speed up the verification of PCD using the modified PICADAR scale and prevent early disability in children.

Conclusion. The use of the developed modification of the PICADAR scale and molecular genetic diagnostic methods makes it possible to speed up the verification of PCD and promptly begin adequate therapy in children.

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About the authors

Yu. L. Mizernitskiy

N.I. Pirogov Russian National Research Medical University, Ministry of Health of Russia

Author for correspondence.
Email: yulmiz@mail.ru
ORCID iD: 0000-0002-0740-1718
SPIN-code: 6135-5260

Professor, MD

Russian Federation, Moscow

A. A. Novak

N.I. Pirogov Russian National Research Medical University, Ministry of Health of Russia

Email: yulmiz@mail.ru
ORCID iD: 0000-0001-9398-2215
SPIN-code: 5452-7075

Candidate of Medical Science

Russian Federation, Moscow

L. V. Sokolova

N.I. Pirogov Russian National Research Medical University, Ministry of Health of Russia

Email: yulmiz@mail.ru
ORCID iD: 0000-0002-2376-0518

Candidate of Medical Science

Russian Federation, Moscow

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2. Fig. 1. Reverse location of internal organs in a child with primary ciliary dyskinesia, according to computed tomography data

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3. Fig. 2. Decreased airiness of the sinuses in a child with primary ciliary dyskinesia, according to computed tomography data

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