IMMOTILE CILIA SYNDROME: RADIAL SPOKES DEFICIENCY IN A PATIENT WITH KARTAGENER'S TRIAD

Kartagener's syndrome has been found to be associated with the immotile cilia syndrome (lack of dynein arms and defective radial spokes in cilia). The ultrastructure of cilia of a child with Kartagener's syndrome was examined and found to be within normal limits. The implications of this are discussed.

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Atypical basal bodies Found in ciliated cells of an asthmatic patient: An acquired ultrastructural alteration or evidence of a disorder of ciliogenesis?

Proceedings, annual meeting, Electron Microscopy Society of America ◽

10.1017/s0424820100147533 ◽

1993 ◽

Vol 51 ◽

pp. 338-339

Author(s):

W.T. Gunning ◽

R.F. Judkins ◽

B.E. Akpunonu

Keyword(s):

Respiratory Tract ◽

Respiratory Tract Infections ◽

Basal Bodies ◽

Ultrastructural Alteration ◽

Immotile Cilia Syndrome ◽

Immotile Cilia ◽

Radial Spokes ◽

Tract Infections ◽

Abnormal Cilia ◽

Ciliary Dyskinesia

Numerous reports of abnormal cilia in human respiratory epithelium have been published within the last ten years; most of these studies have described alterations of the axoneme and attributed these changes to a dysfunction of the ciliary apparatus, otherwise labeled immotile cilia syndrome or primary ciliary dyskinesia. In general, dysfunctional or ineffective mucociliary clearing of the respiratory tract is a prime factor contributing to chronic respiratory tract infections, and while patients with chronic respiratory tract infections do not necessarily have an immotile cilia syndrome, this history is the norm for patients suffering from the congenital disorder. More than 20 alterations of the cilia axoneme have been observed. The most common is the loss of dynein arms and other frequently seen abnormalities include loss of radial spokes and transposition of ciliary microtubules. Approximately one half of the patients found to have ciliary abnormalities also have situs inversus, bronchiectasis, and chronic sinusitis, a triad of manifestations known as Kartagener's syndrome.

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The Immotile Cilia Syndrome: Phase Contrast Light Microscopy, Scanning and Transmission Electron Microscopy

PEDIATRICS ◽

10.1542/peds.65.4.698 ◽

1980 ◽

Vol 65 (4) ◽

pp. 698-702

Author(s):

A. J. P. Veerman ◽

L. van Delden ◽

L. Feenstra ◽

W. Leene

Keyword(s):

Electron Microscopy ◽

Transmission Electron Microscopy ◽

Situs Inversus ◽

Phase Contrast ◽

Immotile Cilia Syndrome ◽

Immotile Cilia ◽

Transmission Electron ◽

Kartagener's Syndrome ◽

Radial Spokes ◽

Dynein Arms

In the immotile cilia syndrome, transmission electron microscopy of the cilia shows abnormalities in the arrangement of the central pairs of tubules and in the dynein arms on the peripheral tubules, or in the radial spokes. We studied four nonrelated children, 9/12, 5, 6, and 6 years old, with situs inversus and a history of chronic sinusitis and bronchitis (Kartagener's syndrome) and four children in the same age group and with the same history, but without situs inversus. Under the phase contrast microscope no motile cilia were seen in the four patients with Kartagener's syndrome and in two of the four other children. Transmission electron microscopy showed aberrations in the cilia (absence of dynein arms, random orientation of central tubules) in the patients with Kartagener's syndrome. Scanning electron microscopy revealed differences in morphology and arrangement of cilia between patients and controls. In the patients much more mucus was present on the mucosal surface. Furthermore, the cilia were in a state of disorder, with a multidirectional orientation instead of the parallel orientation seen in controls.

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Bronchial stereocilia in the immotile cilia syndrome: A case report

Proceedings, annual meeting, Electron Microscopy Society of America ◽

10.1017/s0424820100110635 ◽

1984 ◽

Vol 42 ◽

pp. 52-53

Author(s):

George Price ◽

Lizardo Cerezo

Keyword(s):

Surface Modifications ◽

Respiratory Epithelium ◽

Immotile Cilia ◽

Kartagener's Syndrome ◽

Membrane Blebs ◽

Radial Spokes ◽

Males And Females ◽

Dynein Arms ◽

Ultrastructural Finding ◽

Ultrastructural Findings

Ultrastructural defects of ciliary structure have been known to cause recurrent sino-respiratory infection concurrent with Kartagener's syndrome. (1,2,3) These defects are also known to cause infertility in both males and females. (4) Overall, the defects are defined as the Immotile, or Dyskinetic Cilia Syndrome (DCS). Several ultrastructural findings have been described, including decreased number of cilia, multidirection orientation, fused and compound cilia, membrane blebs, excess matrix in the axoneme, missing outer tubular doublets, translocated doublets, defective radial spokes and dynein arms. A rare but noteworthy ultrastructural finding in DCS is the predominance of microvilli-like structures on the luminal surface of the respiratory epithelium. (5,6) These permanent surface modifications of the apical respiratory epithelium no longer resemble cilia but reflect the ultrastructure of stereocilia, similar to that found in the epidydimal epithelium. Like microvilli, stereocilia are devoid of microtubular ultrastructure in comparison with true cilia.

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