[Clinical and ultrastructural features of ciliary dyskinesia].
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.


OBJECTIVE
To descube clinical and ultrastructural findings and clinical and therapeutic evolution of these patients.


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 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.
Iñiguez C
Rodrigo
R
Departamentos de Otorrinolaringología, Escuela de Medicina, Pontificia Universidad Católica de Chile, Santiago, Chile.
Fonseca A
Ximena
X
Hernández C
Jury
J
González B
Sergio
S
Sánchez D
Ignacio
I
D000293:Adolescent; D000328:Adult; D001706:Biopsy; D002648:Child; D002675:Child, Preschool; D002923:Cilia / Q000648:ultrastructure; D002925:Ciliary Motility Disorders / Q000473:pathology* / Q000628:therapy; D004398:Dyneins / Q000172:deficiency; D004724:Endoscopy; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D008297:Male; D008854:Microscopy, Electron; D008876:Middle Ear Ventilation; D009297:Nasal Mucosa / Q000648:ultrastructure; D010033:Otitis Media / Q000473:pathology; D013517:Otorhinolaryngologic Surgical Procedures; D012008:Recurrence; D012141:Respiratory Tract Infections / Q000473:pathology; D012189:Retrospective Studies; D018709:Statistics, Nonparametric
D004398:Dyneins