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Rev. méd. Chile ; 135(9): 1147-1152, sept. 2007. graf, tab
Article in Spanish | LILACS | ID: lil-468203

ABSTRACT

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 descube 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 percent) the inner dynein arm (IDA) was absent in 50 or more percent of the cilia. Twenty two (66 percent) had absence of the outer dynein arm. Before diagnosis of CD, 19 patients (57 percent) presented recurrent otitis media, 25 patients (77 percent), three or more episodes of rhinosinusitis and 18 patients (56 percent) had recurrent pneumonia. Middle ear ventilation tubes were placed in 19 patients (57 percent), and during its use, 12 (68 percent) remained without othorrea. Sixteen patients (48 percent) with recurrent episodes of rhinosinusitis required adenoidectomy Seven (21 percent) required a functional endoscopic sinus surgery (FESS), and 6 (86 percent) improved after FESS. Conclusions: Our patients with CD presented recurrent infections in different airway locations. In those with a diagnosis of CD and recurrent otol¢gica! 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.


Subject(s)
Adolescent , Adult , Child , Child, Preschool , Female , Humans , Infant , Male , Ciliary Motility Disorders/pathology , Biopsy , Cilia/ultrastructure , Ciliary Motility Disorders/therapy , Dyneins/deficiency , Endoscopy , Follow-Up Studies , Microscopy, Electron , Middle Ear Ventilation , Nasal Mucosa/ultrastructure , Otitis Media/pathology , Otorhinolaryngologic Surgical Procedures , Recurrence , Respiratory Tract Infections/pathology , Retrospective Studies , Statistics, Nonparametric
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