Primary Ciliary Dyskinesia (PCD) is a rare congenital, clinically and genetically heterogeneous disease caused by abnormal structure and/or function of respiratory cilia, with impaired mucociliary transport leading to recurrent respiratory infections and progressive loss of lung function. PCD diagnosis is not easy, since signs and symptoms of this condition are nonspecific and may vary according to the age of the patients. Moreover, diagnostic tests are complex, time consuming and expensive [1]. However, some pointers of the disease, such as laterality defects, daily wet cough and persistent rhinorrhea, may be noticed in the perinatal period and should suggest to refer the patient to the specialist or at the reference center for PCD, in order to perform the diagnostic tests and start the related treatments as soon as possible.
Primary Ciliary Dyskinesia: a rare cause for Bronchiectasis in Childhood
Di Cicco, Maria;Peroni, Diego
2019-01-01
Abstract
Primary Ciliary Dyskinesia (PCD) is a rare congenital, clinically and genetically heterogeneous disease caused by abnormal structure and/or function of respiratory cilia, with impaired mucociliary transport leading to recurrent respiratory infections and progressive loss of lung function. PCD diagnosis is not easy, since signs and symptoms of this condition are nonspecific and may vary according to the age of the patients. Moreover, diagnostic tests are complex, time consuming and expensive [1]. However, some pointers of the disease, such as laterality defects, daily wet cough and persistent rhinorrhea, may be noticed in the perinatal period and should suggest to refer the patient to the specialist or at the reference center for PCD, in order to perform the diagnostic tests and start the related treatments as soon as possible.File | Dimensione | Formato | |
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Abstract SIP s13052-019-0746-3.pdf
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