Primary ciliary dyskinesia: Evolution of pulmonary function

Hellinckx, J.; Demedts, Maurits; Boeck, K. De

doi:10.1007/s004310050843

Cited by 69 publications

(48 citation statements)

References 22 publications

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“…Furthermore, follow-up procedures such as audiometry, sputum culture and lung function evaluations were not performed in some patients. Audiometry is essential in paediatric patients since hearing loss is found in up 25% of children with PCD [24] and sputum culture and regular spirometry should be part of the routine follow-up of chronic inflammatory airways diseases [4,5]. High-resolution computed tomography (HRCT) of the lungs and of paranasal sinuses were not performed in 12% and 40% of the patients, respectively, especially in the younger ones.…”

Section: Discussionmentioning

confidence: 99%

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Health-related quality of life and unmet needs in patients with primary ciliary dyskinesia

Pifferi

Bush²,

Cicco³

et al. 2009

Eur Respir J

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Few studies have evaluated the quality of life of patients with primary ciliary dyskinesia (PCD). We sought to determine the health impact of the disease as well as the unmet needs in a large group of patients.Questionnaires were either posted or e-mailed to known patients with PCD and published online. Questionnaires included the St George's Respiratory Questionnaire, the Medical Outcomes Study Short Form-36 and a questionnaire that we produced to obtain information on age of diagnosis, symptoms and likely PCD-specific problems of these patients.78 subjects (96% of those invited) answered all the questionnaires. Patients were diagnosed at a mean age of 9.4 yrs. Progressive worsening of the disease was observed and adherence to physiotherapy was found to be poor, particularly in adolescents and adults. Patients with the highest treatment burden had a worse quality of life. Over time patients become progressively less interested in treating their disease and adherence to treatment modalities decreases.PCD is associated with a progressive and continuous impact on the physical and mental health of the patients. Earlier identification of the patients and better strategies aimed at improving compliance with care are urgently needed.

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Section: Discussionmentioning

confidence: 99%

“…It is hoped this would prevent the most serious long-term consequences. Indeed, PCD patients diagnosed late appear to have by worse lung function [4,5].…”

mentioning

confidence: 99%

Health-related quality of life and unmet needs in patients with primary ciliary dyskinesia

Pifferi

Bush²,

Cicco³

et al. 2009

Eur Respir J

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“…Even fewer data are available on the range of severity of symptoms and functional limitations in various age groups, and on the natural history of this disease and whether it can be influenced by treatment [8][9][10][11][12]. An unsatisfactory picture of longterm outcome was drawn by NOONE et al [9] in a cross-sectional study during 1994-2002 of 78 subjects with PCD (including 31 children).…”

Section: Epidemiology and Natural History Of Pcdmentioning

confidence: 99%

“…However, the data set was small and heterogeneous, and conclusions therefore questionable. In addition CORKEY et al [11] and and HELLINCKX et al [12] described a relatively stable longterm progression of lung function during childhood in children treated with physiotherapy, although adolescents seemed to fare worse. A large proportion of adult patients were chronically infected with Pseudomonas aeruginosa, and 13 (27%) out of 47 adult patients had very severe disease, with chronic respiratory failure and an FEV1 of f40% of the predicted value.…”

Section: Epidemiology and Natural History Of Pcdmentioning

confidence: 99%

Primary ciliary dyskinesia: a consensus statement on diagnostic and treatment approaches in children

Barbato¹,

Frischer²,

Kuehni³

et al. 2009

Eur Respir J

465

587

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Primary ciliary dyskinesia (PCD) is associated with abnormal ciliary structure and function, which results in retention of mucus and bacteria in the respiratory tract, leading to chronic oto-sino-pulmonary disease, situs abnormalities and abnormal sperm motility.The diagnosis of PCD requires the presence of the characteristic clinical phenotype and either specific ultrastructural ciliary defects identified by transmission electron microscopy or evidence of abnormal ciliary function.Although the management of children affected with PCD remains uncertain and evidence is limited, it remains important to follow-up these patients with an adequate and shared care system in order to prevent future lung damage.This European Respiratory Society consensus statement on the management of children with PCD formulates recommendations regarding diagnostic and therapeutic approaches in order to permit a more accurate approach in these patients. Large well-designed randomised controlled trials, with clear description of patients, are required in order to improve these recommendations on diagnostic and treatment approaches in this disease.

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“…In patients with recent diagnosis at early childhood, the opacities of affected middle and lower segments with atelectasia and mild dilations of bronchi implicated early stages of bronchiectasis [13,17]. Radiologic evidences for bronchiectasis are almost always found in all adults with PCD, and are correlated with the severity and chronicity of the disease and a delayed diagnosis in adults [18].…”

Section: Discussionmentioning

confidence: 99%

Primary Ciliary Dyskinesia in Six Patients with Bronchiectasis

Modaresi

Sadeghi

Mohammadinejad

et al. 2016

Advances in Respiratory Medicine

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Introduction: Primary ciliary dyskinesia [PCD] is generally considered as a rare autosomal recessive disorder. Previous studies reported various prevalence of PCD among patients with bronchiectasis. Material and methods: Six PCD patients who were diagnosed during the investigation of 40 patients with bronchiectasis were enrolled in this study. Ultra structural studies for both epithelium and cilia were performed, and the deformities in detailed electron microscopic images confirmed the diagnosis of PCD. Results: Four patients experienced the first symptoms shortly after the birth, 1 by the age of 1 and 1 by the age of 4 years. Except of 1 case that was diagnosed 2 months after the onset of disease, diagnosis delay was longer than 5 years in all patients. Consanguineous marriage was observed in the parents of all patients. Upper respiratory tract infections were documented for all patients. Conclusions: PCD should be considered as a probable underlying disorder in patients with bronchiectasis. Past medical history of otitis media and history of similar clinical findings in family members should raise suspicion toward PCD.

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Primary ciliary dyskinesia: Evolution of pulmonary function

Cited by 69 publications

References 22 publications

Health-related quality of life and unmet needs in patients with primary ciliary dyskinesia

Health-related quality of life and unmet needs in patients with primary ciliary dyskinesia

Primary ciliary dyskinesia: a consensus statement on diagnostic and treatment approaches in children

Primary Ciliary Dyskinesia in Six Patients with Bronchiectasis

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