Первичная цилиарная дискинезия у детей

The article presents current approaches to medical care delivery in children with primary ciliary dyskinesia. The genetic heterogeneity of the disease causes the variability of pathological symptoms in clinical practice. The most common clinical manifestation in children is the frequent inflammatory diseases of the upper and lower respiratory tract which are registered in the majority of patients, especially in young children. However, the diagnosis is often untimely due to the low disease awareness among medical specialists. The article describes the algorithm for differential diagnostic search in detail, presents approaches to the treatment and management of pediatric patients with primary ciliary dyskinesia. The material is based on clinical recommendations developed and approved by the professional association «Union of Pediatricians of Russia»; recommendations were updated in 2018.Авторами представлены актуальные подходы к оказанию медицинской помощи детям с первичной цилиарной дискинезией. Генетическая неоднородность данного заболевания обусловливает вариабельность патологических симптомов в клинической практике. Наиболее распространенное проявление болезни у детей — частые воспалительные заболевания верхних и нижних дыхательных путей, которые регистрируются у большинства пациентов, особенно у детей раннего возраста. При этом диагноз болезни зачастую устанавливается несвоевременно вследствие невысокой осведомленности специалистов о данной нозологии. В статье подробно изложен алгоритм дифференциально-диагностического поиска, представлены подходы к лечению и ведению пациентов детского возраста с первичной цилиарной дискинезией. Материал основан на клинических рекомендациях, ранее разработанных и утвержденных профессиональной ассоциацией «Союз педиатров России», актуализированных и обновленных в 2018 году

Primary Ciliary Dyskinesia in Children

The article presents current approaches to medical care delivery in children with primary ciliary dyskinesia. The genetic heterogeneity of the disease causes the variability of pathological symptoms in clinical practice. The most common clinical manifestation in children is the frequent inflammatory diseases of the upper and lower respiratory tract which are registered in the majority of patients, especially in young children. However, the diagnosis is often untimely due to the low disease awareness among medical specialists. The article describes the algorithm for differential diagnostic search in detail, presents approaches to the treatment and management of pediatric patients with primary ciliary dyskinesia. The material is based on clinical recommendations developed and approved by the professional association «Union of Pediatricians of Russia»; recommendations were updated in 2018

Impact of COVID-19 infection on lung function and nutritional status amongst individuals with cystic fibrosis: A global cohort study

International audienceBackground: Factors associated with severe COVID-19 infection have been identified; however, the impact of infection on longer-term outcomes is unclear. The objective of this study was to examine the impact of COVID-19 infection on the trajectory of lung function and nutritional status in people with cystic fibrosis (pwCF).Methods: This is a retrospective global cohort study of pwCF who had confirmed COVID-19 infection diagnosed between January 1, 2020 and December 31, 2021. Forced expiratory volume in one second percent predicted (ppFEV 1 ) and body mass index (BMI) twelve months prior to and following a diagnosis of COVID-19 were recorded. Change in mean ppFEV 1 and BMI were compared using a t-test. A linear mixed-effects model was used to estimate change over time and to compare the rate of change before and after infection.Results: A total of 6,500 cases of COVID-19 in pwCF from 33 countries were included for analysis. The mean difference in ppFEV 1 pre-and post-infection was 1.4 %, (95 % CI 1.1, 1.7). In those not on modulators, the difference in rate of change pre-and post-infection was 1.34 %, (95 % CI -0.88, 3.56) per year (p = 0.24) and -0.74 % (-1.89, 0.41) per year (p = 0.21) for those on elexacaftor/tezacaftor/ivacaftor. No clinically significant change was noted in BMI or BMI percentile before and after COVID-19 infection.Conclusions: No clinically meaningful impact on lung function and BMI trajectory in the year following infection with COVID-19 was identified. This work highlights the ability of the global CF community to unify and address critical issues facing pwCF