POSSIBILITIES OF EARLY DIAGNOSIS OF PRIMARY CILIARY DYSKINESIA

Despite the manifestations of primary ciliary dyskinesia (PCD) in the neonatal period or in the first year of life, the diagnosis of this rare disease is usually established at the age of 4–7 years. The aim of the study was to search for reserves for early diagnosis of PCD. Materials and methods of research: 17 patients were observed with PCD, confirmed on the basis of the PICADAR scale, high-speed light video microscopy (all patients) and transmission electron microscopy (in 3 patients) of the mucous biopsy of the respiratory membrane using a genetic study (in one patient). Results: all patients were born full-term; neonatal respiratory distress syndrome (RDS) was observed in 71% of patients; the median duration of mechanical ventilation/oxygen therapy was 14 [7; 21] days; lateralization abnormalities were found in 35% of patients; all patients had persistent nasal congestion and/or rhinorrhea, 94% had chronic or recurrent sinusitis, otitis, recurrent pneumonia, chest x-ray and computed tomography (CT) scans in 71% had atelectasis with constant localization in the middle lobe, 12 of 15 patients, traced in the follow-up, – bronchiectasis (BE), also mainly in the middle lobe (in 9 patients). The average age at diagnosis was 5 [1.75; 7] years, patients with an established diagnosis over the age of 3 years were more often diagnosed with BE. The median of PICADAR scores was 7 [6; 8] points. Conclusions: to establish early diagnosis of PCD, it is important to consider neonatal RDS, lateralization of organs, difficulty in nasal breathing, starting from the first half of life. © 2022, Pediatria Ltd. All rights reserved.

Авторы
Frolov P.A. 1, 2 , Kolganova N.I. 1 , Ovsyannikov D.Yu. 1, 2 , Ozerskaya I.V.3 , Tsverava A.G.2 , Topilin O.G. 2 , Airapetyan M.I.2, 3 , Strelnikova V.A. 1 , Akhmina N.I.4 , Buldakov I.A.5 , Pushko L.V. 1 , Gorev V.V.2, 4
Номер выпуска
1
Язык
Русский
Страницы
107-114
Статус
Опубликовано
Том
101
Год
2022
Организации
  • 1 Peoples’ Friendship University of Russia, Moscow, Russian Federation
  • 2 Morozov Children’s City Clinical Hospital, Moscow, Russian Federation
  • 3 Sechenov First Moscow State Medical University, Moscow, Russian Federation
  • 4 Russian Medical Academy Of Continuous Professional Education, Moscow, Russian Federation
  • 5 Russian National Research Medical University named after N.I. Pirogov, Moscow, Russian Federation
Ключевые слова
early diagnosis; newborn children; primary ciliary dyskinesia; respiratory distress syndrome; Sievert-Kartagener syndrome
Дата создания
06.07.2022
Дата изменения
06.07.2022
Постоянная ссылка
https://repository.rudn.ru/ru/records/article/record/84004/
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