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Barcelona Respiratory Network ReviewsPrimary ciliary dyskinesia (PCD) is a rare genetic respiratory disease caused by a dysfunction of motile respiratory cilia and is characterized by laterality defects, neonatal respiratory distress, recurrent upper and lower airway tract infections, and ...
Sandra Rovira-Amigo +3 more
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Primary ciliary dyskinesia [PDF]
Vojnosanitetski Pregled, 2004 In patients with chronic respiratory diseases that last since the early childhood, primary ciliary dyskinesia (PCD) needs to be considered. Four patients reviewed in this paper were with typical disease history and clinical picture, as well as clear ...
Plavec Goran +4 more
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Diagnosis of primary ciliary dyskinesia [PDF]
Jornal Brasileiro de Pneumologia, 2015 Primary ciliary dyskinesia (PCD) is a genetic disorder of ciliary structure or function. It results in mucus accumulation and bacterial colonization of the respiratory tract which leads to chronic upper and lower airway infections, organ laterality ...
Mary Anne Kowal Olm +2 more
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Ciliary defects and genetics of primary ciliary dyskinesia [PDF]
Paediatric Respiratory Reviews, 2009 Cilia are evolutionarily conserved structures that play key roles in diverse cell types. Motile cilia are involved in the most prominent ciliopathy called primary ciliary dyskinesia (PCD) that combines respiratory symptoms, male infertility, and, in nearly 50% cases, situs inversus.
Serge Amselem, Philippe Duquesnoy
exaly +4 more sources
Primary Ciliary Dyskinesia [PDF]
Clinics in Chest Medicine, 2016 Primary ciliary dyskinesia (PCD) is a recessive genetically heterogeneous disorder of motile cilia with chronic otosinopulmonary disease and organ laterality defects in ∼50% of cases. The prevalence of PCD is difficult to determine. Recent diagnostic advances through measurement of nasal nitric oxide and genetic testing has allowed rigorous diagnoses ...
Michael R, Knowles +2 more
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ERJ Open Research, 2021 Objectives Disease-specific, well-defined and validated clinical outcome measures are essential in designing research studies. Poorly defined outcome measures hamper pooling of data and comparisons between studies.
Florian Gahleitner +13 more
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A new phenotype of Kartagener's syndrome: An interesting case report
Indian Journal of Ophthalmology. Case Reports, 2021 Kartagener's syndrome (KS) is Primary Ciliary Dyskinesia, autosomal recessive disorder characterised by triad of situs inversus of viscera, sinusitis, bronchiectasis due to ciliary dysfunction.
Kalpana Badami Nagaraj +5 more
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Primary ciliary dyskinesia [PDF]
QJM, 2014 Primary ciliary dyskinesia (PCD) is an autosomal recessive disorder of cilia structure, function, and biogenesis leading to chronic infections of the respiratory tract, fertility problems, and disorders of organ laterality. The diagnosis can be challenging, using traditional tools such as characteristic clinical features, ciliary function, and ...
L J, Lobo, M A, Zariwala, P G, Noone
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ERJ Open Research, 2022 Nasal nitric oxide (nNO) measurements are used in the assessment of patients suspected of having primary ciliary dyskinesia (PCD), but recommendations for performing such measurements have not focused on children and do not include all current practices.
Nicole Beydon +18 more
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Primary ciliary dyskinesia [PDF]
Archives of Disease in Childhood, 2002 Primary ciliary dyskinesia (PCD) is an inherited condition characterised by functional and/or structural congenital abnormalities of cilia. Presentation is often in the neonatal period, but there are age-related differences in presentation, and diagnosis is often delayed.
Bush, A, O'Callaghan, C
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