Normal Ciliary Ultrastructure in Children with Kartagener's Syndrome

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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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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Middle Ear Ciliary Defect in Kartagener's Syndrome

PEDIATRICS ◽

10.1542/peds.62.4.443 ◽

1978 ◽

Vol 62 (4) ◽

pp. 443-445

Author(s):

Thomas J. Fischer ◽

James A. McAdams ◽

Gregory N. Entis ◽

Robin Cotton ◽

Joseph E. Ghory ◽

...

Keyword(s):

Otitis Media ◽

Middle Ear ◽

Chronic Otitis Media ◽

Mucociliary Transport ◽

Immotile Cilia Syndrome ◽

Immotile Cilia ◽

Kartagener's Syndrome ◽

Protection Against Infection ◽

Functional Defects

Patients with Kartagener's syndrome have shown electron photomicrographic abnormalities of nasal or bronchial cilia in addition to functional defects of mucociliary transport (immotile cilia syndrome). This report describes a boy with Kartagener's syndrome and chronic otitis media who demonstrates electron photomicrographic abnormalities of middle ear cilia, confirming the important role of cilia in providing protection against infection of the middle ear.

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The Immotile Cilia Syndrome: A Cause of Recurrent Pulmonary Disease in Children

PEDIATRICS ◽

10.1542/peds.66.4.526 ◽

1980 ◽

Vol 66 (4) ◽

pp. 526-531

Author(s):

Anthony R. Rooklin ◽

Stephen J. McGeady ◽

Diran O. Mikaelian ◽

Raymond Z. Soriano ◽

Herbert C. Mansmann

Keyword(s):

Situs Inversus ◽

Chronic Sinusitis ◽

Failure To Thrive ◽

Chronic Respiratory Disease ◽

Recurrent Pneumonia ◽

Bronchodilator Therapy ◽

Immotile Cilia Syndrome ◽

Immotile Cilia ◽

Dynein Arms ◽

Recurrent Otitis Media

Immotile cilia syndrome was diagnosed in two male siblings, aged 32 months and 5 years, who had recurrent pneumonia, wheezing, and bronchitis. The youngest child had recurrent atelectasis, chronic sinusitis, recurrent otitis media, and failure to thrive. Neither child had situs inversus. Electron micrographs done on nasal mucosal biopsies revealed absent dynein arms. Symptoms were controlled in the younger brother by using daily antihistamine-decongestant and bronchodilator therapy. The immotile cilia syndrome must be considered in children before labeling chronic respiratory disease as idiopathic.

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

Acta Paediatrica ◽

10.1111/j.1651-2227.1981.tb05742.x ◽

1981 ◽

Vol 70 (4) ◽

pp. 571-573 ◽

Cited By ~ 13

Author(s):

M. ANTONELLI ◽

A. MODESTI ◽

M. De ANGELIS ◽

P. MARCOLINI ◽

N. LUCARELLF ◽

...

Keyword(s):

Immotile Cilia Syndrome ◽

Immotile Cilia ◽

Radial Spokes

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The Association of Supernumerary Microtubules and Immotile Cilia Syndrome and Defective Neutrophil Chemotaxis

Acta Paediatrica ◽

10.1111/j.1651-2227.1988.tb10712.x ◽

1988 ◽

Vol 77 (4) ◽

pp. 606-607 ◽

Cited By ~ 6

Author(s):

M. Canciani ◽

C. Gardi ◽

E.G. Barlocco ◽

G. Lungarella ◽

G.A. Cazzola ◽

...

Keyword(s):

Neutrophil Chemotaxis ◽

Immotile Cilia Syndrome ◽

Immotile Cilia

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An unusual presentation of immotile-cilia syndrome with azoospermia: Case report and literature review

Lung India ◽

10.4103/0970-2113.56352 ◽

2009 ◽

Vol 26 (4) ◽

pp. 142 ◽

Cited By ~ 4

Author(s):

Ramakant Dixit ◽

Kalpana Dixit ◽

Savita Jindal ◽

KV Shah

Keyword(s):

Case Report ◽

Literature Review ◽

Unusual Presentation ◽

Immotile Cilia Syndrome ◽

Immotile Cilia

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Comparative Isolation of Cilia and Flagella from the Lamellibranch Mollusc, Aequipecten irradians

Journal of Cell Science ◽

10.1242/jcs.12.2.345 ◽

1973 ◽

Vol 12 (2) ◽

pp. 345-367

Author(s):

R. W. LINCK

Keyword(s):

Atpase Activity ◽

Cross Sections ◽

Basal Body ◽

Electron Dense Material ◽

The Matrix ◽

Fine Structures ◽

Dynein Arms ◽

Cilia And Flagella ◽

Triton X ◽

Ciliary Ultrastructure

Gill cilia and sperm flagella from the lamellibranch mollusc Aequipecten irradians were compared with respect to their ultrastructures and adenosinetriphosphatase activities. Cilia were isolated from excised gills using 3 different solutions: twice-concentrated seawater, 10 % ethanol-10 mM CaCl2 and 60% glycerol. In each case deciliation occurs by the severance of the cilium at the junction of the transition zone and the basal body, and in each case the ciliary ultrastructure is maintained. Sperm flagella were purified by mechanical decapitation. Cilia and sperm flagella have similar fine structures, except that the matrix of the cilia contains substantially more electron-dense material than that of flagella. The ATPase activity of purified cilia is approximately 0.09,µmol P1/min/mg protein; that of flagella is 0.13. Ciliary and flagellar axonemes were prepared by repeated extraction of the membranes with 1% Triton X-100. Ciliary axonemes maintain their 9 + 2 cylindrical orientation, whereas flagellar axonemes often appear as opened or fragmented arrays of the 9 + 2 structure, due to the partial breakdown of the flagellar nexin fibres. A-subfibre arms which were obvious in whole organelles are rarely seen in axoneme preparations. Again the ciliary matrix is considerably more amorphous than in flagellar axonemes. The ATPase activities of ciliary and flagellar axonemes are 0.13 and 0.12 µmol P1/min/mg protein respectively; however, activities of ciliary axonemes may vary by a factor of 2, depending on the method of isolation. The difficulty in observing A-subfibre arms in cross-sections of ciliary and flagellar axonemes is discussed in terms of random, non-reinforcing arrangements of the dynein arms.

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