[Primary ciliary dyskinesia. report of three cases].
Primary ciliary dyskinesia is an autosomal recessive disorder, characterized by total or partial dysfunction of the ciliary or flagellated cells. It is clinically expressed by sinusitis and/or bronchiectasis occasionally associated with sterility in males. We report three cases of immotile cilia syndrome with chronic respiratory symptoms (sinusitis, bronchitis, otitis). The syndrome was associated with bronchiectasis in two cases and by half lobe atelectasis in the third. Diagnosis was established by ultrastructural study of samples from the nasal mucosa, in which the absence of the dynein arms and/or the anomalous disposition of the microtubules was observed. In all three patients great clinical improvement and symptom control were achieved, thereby improving the prognosis of these children. Although the syndrome cannot be cured, as in other chronic pneumopathies, early diagnosis and appropriate treatment can considerably reduce morbidity.
Busquets Monge
R
R
Servicios de Pediatría.Anatomía Patológica, Hospital del Mar, Universidad Autónoma de Barcelona, Spain. 7889rmb@terra.es
García López
A
A
Esteban Torné
E
E
Herrero Pérez
S
S
Bargues Cardelus
R
R
Lloreta Trull
J
J
D001987:Bronchiectasis; D002648:Child; D002675:Child, Preschool; D002925:Ciliary Motility Disorders / Q000175:diagnosis*; D005260:Female; D006801:Humans; D007619:Kartagener Syndrome / Q000175:diagnosis; D008297:Male; D001261:Pulmonary Atelectasis