Primary ciliary dyskinesia: mechanisms and management

Damseh, Nadirah; Quercia, Nada; Rumman, Nisreen; Dell, Sharon D.; Kim, Raymond H.

doi:10.2147/tacg.s127129

Cited by 64 publications

(61 citation statements)

References 70 publications

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“…Специального внимания заслуживает вопрос о состоянии репродуктивной функции у пациентов, достигших детородного возраста. Поскольку структурные изменения в жгутиках сперматозоидов идентичны таковым в ресничках респираторного тракта, у большинства пациентов мужского пола снижена подвижность сперматозоидов; вместе с тем у небольшого числа больных подвижность может быть сохранена [21,22], что делает необходимым проведение исследований спермограммы и изучение морфологии сперматозоидов. У женщин с первичной цилиарной дискинезией повышен риск эктопических (внематочных) беременностей.…”

Section: в помощь практическому врачуunclassified

Primary ciliary dyskinesia: modern approaches to the diagnostics and treatment

Богорад

Дьякова

Mizernitsky

2019

Ross. vestn. perinatol. pediatr.

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Primary Ciliary Dyskinesia is an orphane disease from the group of ciliopathies based on genetically determined defect in the structure of the motor cilia of the epithelium of the respiratory system and similar structures. Pathology belongs to the group of autosomal recessive phenotypes with pronounced genetic heterogeneity. It is clinically characterized by a progressive inflammatory lesion of all parts of the respiratory tract in children, a decrease in fertile function in older patients; defects of lateralization and malformations of organs are often observed. Despite a vivid clinical picture, the disease is not always timely diagnosed, which leads to a rapid decrease in pulmonary function, often to unnecessary surgical interventions. The purpose of this article is to familiarize a wide range of pediatricians and pulmonologists with modern methods of diagnostics and therapy of primary ciliary dyskinesia.

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Section: в помощь практическому врачуunclassified

Primary ciliary dyskinesia: modern approaches to the diagnostics and treatment

Богорад

Дьякова

Mizernitsky

2019

Ross. vestn. perinatol. pediatr.

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“…Ciliary structure and function are highly vulnerable to damage from cigarette smoke, chronic inflammation, and pathogens (8,13). Primary ciliary dyskinesia, a disorder of mucociliary clearance, involves the absence or abnormal movement of cilia due to mutations in genes responsible for cilium biogenesis or motility (14). In addition, in cystic fibrosis (CF), asthma, and chronic obstructive pulmonary disease, the excessive mucins and osmolytes on airway surfaces can impair cilium stability through osmotic stress, disruption of the grafted-brush form, and collapse or entanglement of apical cilia (15).…”

Section: Motile Ciliamentioning

confidence: 99%

Mucociliary Defense: Emerging Cellular, Molecular, and Animal Models

et al. 2018

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Respiratory tissues are bombarded by billions of particles daily. If allowed to accumulate, these particles can cause injury, inflammation, or infection, and thus may significantly disrupt airflow and gas exchange. Mucociliary defense, a primary mechanism for protecting host tissues, operates through the coordinated functions of mucus and cilia that trap and eliminate inhaled materials. Mucociliary function is also required for the elimination of endogenous cells and debris. Although defense is necessarily robust, it is also tightly regulated to minimize physiologic disruption of the host. Indeed, mucociliary dysfunction contributes to the pathogenesis of many lung diseases-including asthma, chronic obstructive pulmonary disease, pulmonary fibrosis, and cystic fibrosis-in which airflow limitation, inflammation, persistent tissue injury, and structural remodeling occur. Here, we highlight recent advances in cilia and mucin biology, the importance of well-controlled mucociliary interactions, and the need to better understand how these regulate innate barrier and immune defense.

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“…However, data are heterogeneous as the risk is increased in adult chronic obstructive pulmonary disease or non-allergic asthma (5,6), while in patients with cystic brosis (CF) the COVID-19 course was not signi cantly different from the general population [7] . Primary ciliary dyskinesia (PCD; MIM244400), a rare genetic disorder, is characterized by impaired mucociliary clearance and recurrent-to-chronic respiratory infections [8] . Development of bronchiectasis with progressive loss of pulmonary function, fertility issues, and situs viscerum inversus in 50% of cases (Kartagener syndrome) are the hallmarks of the condition [9] .…”

Section: Introductionmentioning

confidence: 99%

“…Development of bronchiectasis with progressive loss of pulmonary function, fertility issues, and situs viscerum inversus in 50% of cases (Kartagener syndrome) are the hallmarks of the condition [9] . Yet in adolescence or young adulthood PCD lung disease may progressively deteriorate and therefore PCD is considered a chronic entity [8] . There are no reports on COVID-19 in PCD.…”

Section: Introductionmentioning

confidence: 99%

Is Quarantine for COVID-19 Pandemic Associated with Psychological Burden in Primary Ciliary Dyskinesia? A Prospective Study.

Riccio

Borrelli

Fioretti

et al. 2020

Preprint

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Background: Primary ciliary dyskinesia (PCD) is a rare disorder with variable disease progression. Information on the psychological impact of the Coronavirus Disease 2019 (COVID-19) quarantine in PCD, a condition with characteristics of personal and familiar increased stress due to frequent pulmonary exacerbations and high risk of lung function deterioration, is lacking. We designed a prospective study to assess the psychological burden and parental stress during the COVID-19 lockdown in Italy in a PCD population.Methods: Questionnaires assessing psychological well-being were administered to 10 PCD patients <15 years-old’s mothers (Group A: Parenting Stress Index-Short Form), to 17 PCD patients >=15 years-old (Group B: Psychological General Well-Being Index) and to 27 controls. We compared the PCD pulmonary exacerbations from the beginning of the outbreak and the frequency of weekly chest physiotherapy sessions during quarantine to the same period in 2019. Results: Seventy percent of Group A cases did not present parental stress levels. Ninety percent of Group B subjects did not show scores indicating distress. Groups A and B showed no significant difference versus controls in parental stress and psychological well-being, respectively. In the whole PCD population pulmonary exacerbations from the beginning of outbreak were less than in the same period of 2019 (p<0.05), and weekly chest physiotherapy sessions significantly increased during the quarantine compared to the same period of 2019 (p<0.05).Conclusions: We found that during COVID-19 quarantine, a PCD population in Italy neither developed psychological distress nor had a psychological burden significantly different than controls. We speculate that the low pulmonary exacerbation rate, explained by lower exposure to infectious triggers or by improved compliance to weekly chest physiotherapy, likely contributes to the psychological well-being of PCD patients and their families. The evaluation of the psychological burden and parental stress is a valuable tool for measuring the emotional impact of PCD and ultimately improving the medical care to PCD patients and their families, especially when exceptional events such as a pandemic occur.

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Primary ciliary dyskinesia: mechanisms and management

Cited by 64 publications

References 70 publications

Primary ciliary dyskinesia: modern approaches to the diagnostics and treatment

Primary ciliary dyskinesia: modern approaches to the diagnostics and treatment

Mucociliary Defense: Emerging Cellular, Molecular, and Animal Models

Is Quarantine for COVID-19 Pandemic Associated with Psychological Burden in Primary Ciliary Dyskinesia? A Prospective Study.

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