Disquinesia ciliar: Diagnóstico ultraestructural, evolución clínica y alternativas de tratamiento

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Background: 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. Aim: To describe clinical and ultrastructural findings and clinical and therapeutic evolution of these patients. Patients and Methods: 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. Results: 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. 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. FESS and the use of ventilation tubes may have a beneficial role in a subgroup of patients with CD.




Iñiguez C, R., Fonseca A, X., Hernández C, J., González B, S., & Sánchez D, I. (2007). Disquinesia ciliar: Diagnóstico ultraestructural, evolución clínica y alternativas de tratamiento. Revista Medica de Chile, 135(9), 1147–1152. https://doi.org/10.4067/s0034-98872007000900008

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