Abstract：
INTRODUCTION:Primary ciliary dyskinesia (PCD) is an inherited disease responsible for a disruption of normal ciliary function. Its clinical presentation is usually in early childhood with pulmonary and otorhinolaryngologic symptoms. Early diagnosis is essential to avoid the development of bronchiectasis. The aim of the study was to retrospectively review the clinical features of children suspected to have PCD. RESULTS:A total of 89 children had a bronchoscopy to perform a biopsy analyzed by transmission electron microscopy (TEM) in the childrens' hospital of Rennes between 2000 and 2009. PCD was diagnosed in 17 children, excluded in 51 and results were uncertain in 21 children. Mean age at diagnosis was 6.5 years. In the PCD group, a history of neonatal respiratory distress was found in 40% of cases, 82% had had bronchopneumonia, 37% sinusitis, 82% recurrent otitis and 23% situs inversus. These subjects had defects in ciliary structure, 59% in the dynein arms, 35% in the central complex and 6% having both. Nasal nitric oxide production was consistent with the results of TEM in 16 cases: five PCD, 11 without PCD. In two cases, the results were discordant. CONCLUSION:This case series highlights the key clinical features of recurrent otitis, sinusitis, and situs inversus, especially when occurring in combination with bronchitic symptoms. Measures of nasal nitric oxide are useful for the diagnosis of PCD and in the case of high levels of NO, PCD is unlikely. Results may not be definitive and TEM analysis of biopsies is still indispensable to ensure the diagnosis and guide genetic counselling.
journal_name
Rev Mal Respirjournal_title
Revue des maladies respiratoiresauthors
Beucher J,Chambellan A,Segalen J,Deneuville Edoi
10.1016/j.rmr.2011.02.014subject
Has Abstractpub_date
2011-09-01 00:00:00pages
856-63issue
7eissn
0761-8425issn
1776-2588pii
S0761-8425(11)00291-9journal_volume
28pub_type
杂志文章,评审abstract：:This study was carried out between 1973 and 1982 on the proportional mortality by lung cancer of a group of workers living either in Brussells or in Wallonia and receiving compensation for silicosis or anthrasilicosis. The majority of patients suffered from anthrasilicosis (more than 96%) and had been exposed to the r...
journal_title：Revue des maladies respiratoires
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journal_title：Revue des maladies respiratoires
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journal_title：Revue des maladies respiratoires
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journal_title：Revue des maladies respiratoires
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journal_title：Revue des maladies respiratoires
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journal_title：Revue des maladies respiratoires
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journal_title：Revue des maladies respiratoires
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journal_title：Revue des maladies respiratoires
pub_type： 杂志文章
doi：
更新日期：1990-01-01 00:00:00
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journal_title：Revue des maladies respiratoires
pub_type： 杂志文章
doi：
更新日期：1988-01-01 00:00:00
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journal_title：Revue des maladies respiratoires
pub_type： 杂志文章,评审
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journal_title：Revue des maladies respiratoires
pub_type： 杂志文章,评审
doi：
更新日期：2005-12-01 00:00:00
