Ultrastructural patterns of primary ciliar dyskinesia syndrome.
Clinical presentation, ciliary ultrastructure, and nasal mucociliary transport by a radioisotopic technique were analyzed in 14 Kartagener syndrome patients. In this study the most common pattern was the absence of outer and inner dynein arms in 57% of cases. Also reported are 14% patients with short inner dynein arms. A total of 29% of the patients showed normal dynein arms. Mucociliary stasis was observed in 13 cases. Primary ciliary dyskinesia syndrome and Kartagener syndrome are clinically homogeneous and morphologically heterogeneous. The authors conclude that a typical clinical presentation with an altered mucociliary transport obtained by radioisotopic technique is diagnostic although ciliary ultrastructure is normal.
Carda
Carmen
C
Department of Pathology, Medical School, University of Valencia, Valencia, Spain.
Armengot
Miguel
M
Escribano
Amparo
A
Peydró
Amando
A
D000293:Adolescent; D000328:Adult; D002648:Child; D002923:Cilia / Q000473:pathology / Q000648:ultrastructure*; D003937:Diagnosis, Differential; D004398:Dyneins / Q000172:deficiency / Q000648:ultrastructure*; D005260:Female; D006801:Humans; D007223:Infant; D007619:Kartagener Syndrome / Q000175:diagnosis* / Q000473:pathology* / Q000648:ultrastructure; D008297:Male; D046529:Microscopy, Electron, Transmission; D008875:Middle Aged; D009079:Mucociliary Clearance; D009297:Nasal Mucosa / Q000473:pathology* / Q000648:ultrastructure
D004398:Dyneins