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Ciliary ultrastructure in two sisters with Kartagener's syndrome

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Abstract

Kartagener's syndrome (KS) is a clinical variant of primary ciliary dyskinesia involving situs inversus associated with chronic airway infections. We studied two sisters; the elder one had dextrocardia and scoliosis, and the younger one had situs inversus of the lung, liver, and stomach as well as dextrocardia. Both patients had chronic sinusitis and chronic bronchitis with bronchiectasis. In both cases, the ciliary defect associated with this syndrome is the absence of inner dynein arms.

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References

  1. M Kartagener (1933) ArticleTitleZur pathologie der bronchiectasien bei situs viscerum inversus Beitr Klinik Tuberk 83 489–501 Occurrence Handle10.1007/BF02141468

    Article  Google Scholar 

  2. M Armengot C Carda J Basterra (1999) Disquinesias mucociliares LM Gil Carcedo J Marco J Medina P Ortega J Trinidad (Eds) Tratado de otorrinolaringología y cirugía de cabeza y cuello Proyectos Médicos Guadalajara 638–646

    Google Scholar 

  3. B Afzelius (1995) ArticleTitleSitus inversus and ciliary abnormalities. What is the connection? Int J Dev Biol 39 839–844 Occurrence Handle8645568 Occurrence Handle1:STN:280:BymB3cfnslQ%3D

    PubMed  CAS  Google Scholar 

  4. M Armengot Carceller C Carda Batalla A Escribano GJ Samper (2005) ArticleTitleStudy of mucociliary transport and nasal ciliary ultrastructure in patients with Kartagener's syndrome Arch Bronconeumol 41 11–15 Occurrence Handle15676130 Occurrence Handle10.1157/13070275 Occurrence Handle1:STN:280:DC%2BD2M%2FoslCmuw%3D%3D

    Article  PubMed  CAS  Google Scholar 

  5. M Lurie G Rennert S Goldberg J Rivlin E Greenberg I Katz (1992) ArticleTitleCiliary ultrastructure in primary ciliary dyskinesia and other chronic conditions: the relevance of microtubular abnormalities Ultrastruct Pathol 6 547–553

    Google Scholar 

  6. H Hagiwara N Ohwada K Takata (2004) ArticleTitleCell biology of normal and abnormal ciliogenesis in the ciliated epithelium Int Rev Cytol 234 101–141 Occurrence Handle15066374 Occurrence Handle10.1016/S0074-7696(04)34003-9

    Article  PubMed  Google Scholar 

  7. H Hagiwara N Ohwada T Aoki K Takata (2000) ArticleTitleCiliogenesis and ciliary abnormalities Med Electron Microsc 33 109–114 Occurrence Handle11810467 Occurrence Handle10.1007/s007950000009 Occurrence Handle1:STN:280:DC%2BD38%2Foslynug%3D%3D

    Article  PubMed  CAS  Google Scholar 

  8. BA Afzelius (1976) ArticleTitleHuman syndrome caused by immotile cilia Science 193 317–319 Occurrence Handle1084576 Occurrence Handle10.1126/science.1084576 Occurrence Handle1:STN:280:CSmB38vjvVA%3D

    Article  PubMed  CAS  Google Scholar 

  9. M Jorissen B Bertrand (1997) ArticleTitleCiliary dyskinesia in the nose and paranasal sinuses Acta Otorhinolaringol Belg 51 353–366 Occurrence Handle1:STN:280:DyaK1c7gs1OrtA%3D%3D

    CAS  Google Scholar 

  10. EL Holzbaur RB Vallee (1994) ArticleTitleDYNEINS: molecular structure and cellular function Annu Rev Cell Biol 10 339–372 Occurrence Handle7888180 Occurrence Handle10.1146/annurev.cb.10.110194.002011 Occurrence Handle1:CAS:528:DyaK2MXitlSnsLc%3D

    Article  PubMed  CAS  Google Scholar 

  11. M Chilvers A Rutman C O'Callaghan (2003) ArticleTitleCiliary beat pattern is associated with specific ultrastructural defects in primary ciliary dyskinesia J Allergy Clin Immunol 112 518–524 Occurrence Handle13679810 Occurrence Handle10.1016/S0091-6749(03)01799-8

    Article  PubMed  Google Scholar 

  12. G Pennarun E Escudier C Chapelin AM Bridoux V Cacheux G Roger A Clement M Goossens S Amselem B Duriez (1999) ArticleTitleLoss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia Am J Hum Genet 65 1508–1519 Occurrence Handle10577904 Occurrence Handle10.1086/302683 Occurrence Handle1:CAS:528:DC%2BD3cXjvFentQ%3D%3D

    Article  PubMed  CAS  Google Scholar 

  13. C Guichard MC Harricane JJ Lafitte P Godard M Zaegel V Tack G Lalau P Bouvagnet (2001) ArticleTitleAxonemal dynein intermediate-chain gene (DNAI1) mutations result in situs inversus and primary ciliary dyskinesia (Kartagener syndrome) Am J Hum Genet 68 1030–1035 Occurrence Handle11231901 Occurrence Handle10.1086/319511 Occurrence Handle1:CAS:528:DC%2BD3MXkvFarsL8%3D

    Article  PubMed  CAS  Google Scholar 

  14. M Zariwala PG Noone A Sannuti S Minnix Z Zhou MW Leigh M Hazucha JL Carson MR Knowles (2001) ArticleTitleGermline mutations in an intermediate chain dynein cause primary ciliary dyskinesia Am J Respir Cell Mol Biol 25 577–583 Occurrence Handle11713099 Occurrence Handle1:CAS:528:DC%2BD3MXpt1Smu7k%3D

    PubMed  CAS  Google Scholar 

  15. H Olbrich K Haffner A Kispert A Volkel A Volz G Sasmaz R Reinhardt S Hennig H Lehrach N Konietzko M Zariwala PG Noone M Knowles HM Mitchison M Meeks EM Chung F Hildebrandt R Sudbrak H Omran (2002) ArticleTitleMutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry Nat Genet 30 143–144 Occurrence Handle11788826 Occurrence Handle10.1038/ng817 Occurrence Handle1:CAS:528:DC%2BD38XhtFWlt7o%3D

    Article  PubMed  CAS  Google Scholar 

  16. L Bartoloni J Blouin Y Pan S Antonarakis (2002) ArticleTitleMutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia Proc Natl Acad Sci U S A 99 10282–10286 Occurrence Handle12142464 Occurrence Handle10.1073/pnas.152337699 Occurrence Handle1:CAS:528:DC%2BD38Xmt1Citbw%3D

    Article  PubMed  CAS  Google Scholar 

  17. A Moore E Escudier G Roger A Tamalet B Pelosse S Marlin A Clement M Geremek B Delaisi A-M Bridoux A Coste M Witt B Duriez S Amselem M Witt B Duriez S Amselem (2006) ArticleTitleRPGR is mutated in patients with a complex X linked phenotype combining primary ciliary dyskinesia and retinitis pigmentosa J Med Genet 43 326–333 Occurrence Handle16055928 Occurrence Handle10.1136/jmg.2005.034868 Occurrence Handle1:CAS:528:DC%2BD28XktlymtLY%3D

    Article  PubMed  CAS  Google Scholar 

  18. P Noone M Leigh A Sannuti S Minnix J Carson M Hazucha MA Zariwala MR Knowles (2004) ArticleTitlePrimary ciliary dyskinesia: diagnostic and phenotypic features Am J Respir Crit Care Med 169 457–459

    Google Scholar 

  19. BA Afzelius (1985) ArticleTitleThe immotile-cilia syndrome: a microtubule associated defect CRC Crit Rev Biochem 19 63–87 Occurrence Handle3907978 Occurrence Handle1:STN:280:BimD1c%2Fns1c%3D

    PubMed  CAS  Google Scholar 

  20. FN Ghadially (1997) Atypical cilia Ultrastructural pathology of the cell and matrix EditionNumber4th edn Butterworth-Heinemann Boston 1278–1283

    Google Scholar 

  21. M Jorissen T Willems B Van der Schueren E Verbeken (2000) ArticleTitleSecondary ciliary dyskinesia is absent after ciliogenesis in culture Acta Otorhinolaryngol Belg 54 333–342 Occurrence Handle11082770 Occurrence Handle1:STN:280:DC%2BD3MzisVWgsw%3D%3D

    PubMed  CAS  Google Scholar 

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Authors and Affiliations

  1. Division of Morphological Science, Biomedical Research Center, Saitama Medical University, 38 Moroyama, Iruma-gun, Saitama, 350-0495, Japan

    Kayoko Tanaka & Masumi Akita

  2. Department of Respiratory Medicine, Saitama Medical University, Saitama, Japan

    Akihisa Sutani & Yuka Uchida

  3. Department of Pathology, Saitama Medical University, Saitama, Japan

    Yoshihiko Shimizu & Michio Shimizu

Authors
  1. Kayoko Tanaka
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  2. Akihisa Sutani
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  3. Yuka Uchida
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  4. Yoshihiko Shimizu
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  5. Michio Shimizu
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  6. Masumi Akita
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Corresponding author

Correspondence to Masumi Akita.

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Tanaka, K., Sutani, A., Uchida, Y. et al. Ciliary ultrastructure in two sisters with Kartagener's syndrome. Med Mol Morphol 40, 34–39 (2007). https://doi.org/10.1007/s00795-007-0354-y

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  • DOI: https://doi.org/10.1007/s00795-007-0354-y

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