Abstract
Ciliary dyskinesia (CD) is a low incidence genetic illness, that presents with a wide clinical spectrum. Also, there are transitory conditions that present with ciliary anomalies, secondary to infectious diseases of the airways. To descube clinical and ultrastructural findings and clinical and therapeutic evolution of these patients. Retrospective review of medical records and electron microscopy findings of 33 patients (aged 1 to 21 years, 14 females) with ultrastructural diagnosis of CD. To obtain follow up information, a telephone survey was done. In 30 patients (90%) the inner dynein arm (IDA) was absent in 50 or more percent of the cilia. Twenty two (66%) had absence of the outer dynein arm. Before diagnosis of CD, 19 patients (57%) presented recurrent otitis media, 25 patients (77%), three or more episodes of rhinosinusitis and 18 patients (56%) had recurrent pneumonia. Middle ear ventilation tubes were placed in 19 patients (57%), and during its use, 12 (68%) remained without othorrea. Sixteen patients (48%) with recurrent episodes of rhinosinusitis required adenoidectomy Seven (21%) required a functional endoscopic sinus surgery (FESS), and 6 (86%) improved after FESS. Our patients with CD presented recurrent infections in different airway locations. In those with a diagnosis of CD and recurrent otológica! and rhinosinusal infections, IDA was absent in a high percentage of cilia. FESS and the use of ventilation tubes may have a beneficial role in a subgroup of patients with CD.
Highlights
Ciliary dyskinesia (CD) is a low incidence genetic illness, that presents with a wide clinical spectrum
Before diagnosis of CD, 19 patients (57%) presented recurrent otitis media, 25 patients (77%), three or more episodes of rhinosinusitis and 18 patients (56%) had recurrent pneumonia
Middle ear ventilation tubes were placed in 19 patients (57%), and during its use, 12 (68%) remained without othorrea
Summary
Ciliary dyskinesia (CD) is a low incidence genetic illness, that presents with a wide clinical spectrum. Before diagnosis of CD, 19 patients (57%) presented recurrent otitis media, 25 patients (77%), three or more episodes of rhinosinusitis and 18 patients (56%) had recurrent pneumonia. Conclusions: Our patients with CD presented recurrent infections in different airway locations. In those with a diagnosis of CD and recurrent otological and rhinosinusal infections, IDA was absent in a high percentage of cilia. La función ciliar puede estar alterada por múltiples causas, se han descrito alteraciones como ausencia o anormalidad en el batido en cada cilio o falta de batido unidireccional de los cilios en su conjunto[2]. Ausencia de los brazos de dineína pueden tener estas alteraciones como consecuencia de infecciones o causas inflamatorias de la mucosa, lo que forma parte del grupo de disquinesia ciliar secundaria[2]. Los objetivos del presente trabajo fueron revisar todas las biopsias con el diagnóstico de disquinesia ciliar en conjunto con el patólogo y volver a medir el porcentaje de alteraciones ciliares e intentar correlacionar los hallazgos ultraestructurales con la presentación clínica
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