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

PEDIATRICS ◽  
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.

scholarly journals Hydrocephalus, Situs Inversus, Chronic Sinusitis, and Male Infertility in DNA Polymerase λ-Deficient Mice: Possible Implication for the Pathogenesis of Immotile Cilia Syndrome

2002 ◽  
Vol 22 (8) ◽  
pp. 2769-2776 ◽  
Author(s):  
Yosuke Kobayashi ◽  
Miho Watanabe ◽  
Yuki Okada ◽  
Hirofumi Sawa ◽  
Hiroyuki Takai ◽  
...  
Keyword(s):  
Male Infertility ◽  
Dna Polymerase ◽  
Situs Inversus ◽  
Chronic Sinusitis ◽  
Dna Polymerases ◽  
Situs Inversus Totalis ◽  
High Rate ◽  
Immotile Cilia Syndrome ◽  
Immotile Cilia ◽  
Dna Polymerase Λ

ABSTRACT A growing number of DNA polymerases have been identified, although their physiological function and relation to human disease remain mostly unknown. DNA polymerase λ (Pol λ; also known as Pol β2) has recently been identified as a member of the X family of DNA polymerases and shares 32% amino acid sequence identity with DNA Pol β within the polymerase domain. With the use of homologous recombination, we generated Pol λ−/− mice. Pol λ−/− mice develop hydrocephalus with marked dilation of the lateral ventricles and exhibit a high rate of mortality after birth, although embryonic development appears normal. Pol λ−/− mice also show situs inversus totalis and chronic suppurative sinusitis. The surviving male, but not female, Pol λ−/− mice are sterile as a result of spermatozoal immobility. Microinjection of sperm from male Pol λ−/− mice into oocytes gives rise to normal offspring, suggesting that the meiotic process is not impaired. Ultrastructural analysis reveals that inner dynein arms of cilia from both the ependymal cell layer and respiratory epithelium are defective, which may underlie the pathogenesis of hydrocephalus, situs inversus totalis, chronic sinusitis, and male infertility. Sensitivity of Pol λ−/− cells to various kinds of DNA damage is indistinguishable from that of Pol λ+/+ cells. Collectively, Pol λ−/− mice may provide a useful model for clarifying the pathogenesis of immotile cilia syndrome.

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

PEDIATRICS ◽  
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.

Normal Ciliary Ultrastructure in Children with Kartagener's Syndrome

1980 ◽  
Vol 89 (1) ◽  
pp. 81-83 ◽  
Author(s):  
Fred S. Herzon ◽  
Shirley Murphy
Keyword(s):  
Immotile Cilia Syndrome ◽  
Normal Limits ◽  
Immotile Cilia ◽  
Kartagener's Syndrome ◽  
Radial Spokes ◽  
Dynein Arms ◽  
Ciliary Ultrastructure

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.

Immotile cilia syndrome including polysplenia, situs inversus, and extrahepatic biliary atresia

1989 ◽  
Vol 33 (3) ◽  
pp. 390-393 ◽  
Author(s):  
Ruth Gershoni-Baruch ◽  
Emanuel Gottfried ◽  
Menucha Pery ◽  
Abdala Sahin ◽  
Amos Etzioni
Keyword(s):  
Biliary Atresia ◽  
Situs Inversus ◽  
Immotile Cilia Syndrome ◽  
Extrahepatic Biliary Atresia ◽  
Immotile Cilia

scholarly journals Kartagener Syndrome: Congenital Variety of Primary Ciliary Dyskinesia with Infertility

2010 ◽  
Vol 1 (1) ◽  
pp. 16-17
Author(s):  
Amit Nandan Dhar Dwivedi
Keyword(s):  
Situs Inversus ◽  
Primary Ciliary Dyskinesia ◽  
Chronic Sinusitis ◽  
The United States ◽  
Medical Sciences ◽  
Immotile Cilia ◽  
Kartagener's Syndrome ◽  
P 16 ◽  
Classical Triad ◽  
Ciliary Dyskinesia

We report a rare case of Kartagener's Syndrome, congenital variety of Primary Ciliary Dyskinesia (PCD) with infertility. The patient exhibited the classical triad of which was elucidated by Manes Kartagener in 1933. The frequency of KS in the United States is 1 case per 32,000 live births. Situs inversus occurs randomly in half the patients with PCD; therefore, for every patient with KS, another patient has PCD but not situs inversus.  Current nomenclature classifies all congenital ciliary disorders as PCDs in order to differentiate them from acquired types. KS is part of the larger group of disorders referred to as PCDs. Approximately one half of patients with PCD have situs inversus and, thus, are classified as having KS.Keywords: Immotile cilia syndrome; Primary ciliary dyskinesia (PCD); Situs inversus; Chronic sinusitis; Bronchiectasis.DOI: 10.3126/ajms.v1i1.2605Asian Journal of Medical Sciences Vol.1(1) 2010 p.16-17

Bronchial stereocilia in the immotile cilia syndrome: A case report

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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