Search results
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.
Primary ciliary dyskinesia (PCD) represents a clinical and genetic heterogeneous group of respiratory ciliopathies, with reduced mucociliary clearance of the airways. The various mutations result in different clinical and pathological patterns, contributing to the challenges of diagnosis.
PCD is a genetically heterogeneous disease of motile cilia, and the diagnosis is often delayed, in part secondary to the limitations of available diagnostic testing. Historically, a diagnosis of PCD was made by transmission electron microscopy (TEM) of ciliary ultrastructure.
29 wrz 2015 · A small proportion of PCD patients are discharged home on day 1 of life but are then hospitalized with respiratory distress within the first few weeks of life. Often misdiagnosed with TTN or pneumonia, PCD infants frequently require supplemental oxygen for days to weeks.
4 kwi 2023 · Primary ciliary dyskinesia (PCD) is a rare but underdiagnosed disorder that affects motile cilia function throughout the body.
Significant advances have been made in the diagnosis of patients with primary ciliary dyskinesia (PCD) including centralised services [1–3], European consensus guidelines , systematic, protocol-directed diagnostic testing in a national service in the UK and in a PCD research consortium in North America , and evidence for standardisation of ...
Approximately 80% of children with PCD have a history of 3) neonatal respiratory distress syndrome as term newborns, defined as the need for supplemental oxygen or positive pressure ventilation support for more than 24 hours without clear explanation (6–9).
