Primary ciliary dyskinesia (PCD) is a rare autosomal recessive disorder of cilia structure, function, and biogenesis leading to neonatal respiratory distress, chronic oto-sino-pulmonary disease...
Testing for PCD should be performed if there is a high clinical suspicion and other more common diseases have been ruled out.
A definitive diagnosis cannot be made clinically and thus require...
Respiratory:
Aggressive, early treatment of upper and lower airway infections with prolonged, high-dose oral antibiotics; low threshold for treatment (2)[B]
Most common organisms are nontype...
Lung disease in PCD is progressive if not adequately treated; appropriate medical therapy has been shown to stabilize and prevent deterioration of lung function (as opposed to CF, which t...
Armengot Carceller M, Mata Roig M, Milara Payá X, et al. Primary ciliary dyskinesia. Ciliopathies. Acta Otorrinolaringol Esp. ...
K59.8 Other specified functional intestinal disorders
Q43.8 Other specified congenital malformations of intestine
86204009 immotile cilia syndrome (disorder)
233663004 Primary ciliary dy...
PCD is an underdiagnosed disease, and a delay in diagnosis and treatment is associated with a significant decline in lung function.
An assessment of ciliary function and structure is cu...
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