Ultrastructural patterns of primary ciliar dyskinesia syndrome

Ultrastruct Pathol. Jan-Feb 2005;29(1):3-8. doi: 10.1080/01913120490897538.

Abstract

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.

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Cilia / pathology
  • Cilia / ultrastructure*
  • Diagnosis, Differential
  • Dyneins / deficiency
  • Dyneins / ultrastructure*
  • Female
  • Humans
  • Infant
  • Kartagener Syndrome / diagnosis*
  • Kartagener Syndrome / pathology*
  • Kartagener Syndrome / ultrastructure
  • Male
  • Microscopy, Electron, Transmission
  • Middle Aged
  • Mucociliary Clearance
  • Nasal Mucosa / pathology*
  • Nasal Mucosa / ultrastructure

Substances

  • Dyneins