medigraphic.com
ISSN 1561-3038 (Print)

2019, Number 2

<< Back Next >>

Rev Cubana Med Gen Integr 2019; 35 (2)

Kartagener Syndrome

Castañeda GC, Mullo CJD, Medina MDR, Tamayo GJM

Language: Spanish
References: 28
Page: 1-14
PDF size: 326.21 Kb.


ABSTRACT

Introduction: Kartagener syndrome is a clinical variation of primary ciliary dyskinesia, characterized by the classic triad of chronic sinusitis, bronchiectasis and situs inversus (total or partial), classified as a rare autosomal recessive inheritance disease.
Objective: To analyze the clinical manifestations, complementary tests and treatment of patients diagnosed with Kartagener syndrome in the Republic of Ecuador.
Case presentation: Female patient, of Ecuadorian nationality, with clinical manifestations of the Kartagener syndrome triad and infertility trait, with a history of chronic sinusitis since 14 years of age. Imaging studies of thorax, x-rays and computed tomography of chest and paranasal sinuses confirmed the manifestations of Kartagener syndrome, which represents the seventh case reported in the country. Respiratory evolution and therapeutic management are exposed. In this context, we analyze the clinical characteristics of the series of seven cases reported in Ecuador up to the present, corresponding to the period 2015-2018 and complementary tests performed for the certainty and differential diagnosis.
Conclusions: The seventh case of Kartagener syndrome diagnosed in Ecuador is presented, and the series of a totality of 7 patients reported in the country between 2015-2018 is analyzed.


REFERENCES

  1. Morgan L. The impact of Primary Ciliary Dyskinesia on the upper respiratory tract: Elsevier Paediatric Respiratory Reviews. 2016;18(3):33-8. Acceso: 09/08/2018. Disponible en: https://www.sciencedirect.com/science/article/pii/S1526054215000913?via %3Dihub

  2. Mendes R, Bernardes F. Kartagener’s syndrome: Pan Afr Med J. 2018;29(160). Acceso: 04/12/2018. doi:10.11604/pamj.2018.29.160.14927. Disponible en: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6057558/

  3. Leigh M, Ferkos TC, Davis SD, Lee S-H, Roseneld M, Sagel SD, et al. Clinical features and associated likelihood of Primary Ciliary Dyskinesia in childhood and adolescents. Annals ATS. 2016;13(5):1305-13.

  4. Sanders C. The prevalence of the defining features of primary ciliary dyskinesia within a cri du chat syndrome cohort: Pediatric Pulmonology Journal. 2018;10(9):1002-10. Acceso: 04/08/2018. Disponible en: https://onlinelibrary.wiley.com/doi/pdf/10.1002/ppul.24159

  5. Gutiérrez D, Solarte-Bothe D, Celis CA. Síndrome de Kartagener: reporte de un caso y revisión de la literatura. Universitas Médica 2017;58(1):1-9. Disponible en: https://doi.org/10.11144/Javeriana.umed58-1.kart

  6. Afzelius BA, Stenram U. Prevalence an genetics of inmotile-cilia síndrome and left handedness, Int J Dis Biol. 2006:50:571-3.

  7. Senn A, Filzmaier K. Rare disease from a life insurance perspectives. Europe PMC. 2015;67:80-183.

  8. Richter T, Nestler-Parr S, Babela R, Khan ZM, Tesoro T, Molsen E, et al. Rare disease, terminology and definition-A Systematic Global Review: Report of the ISPOR Rare Disease Special Interest Group. Value Health. 2015;18:906-14. Disponible en: 10.1016/j.jval.2015.05.008

  9. Pandey AK, Maithani T. Kartagener's Syndrome: clinical reappraisal with two case report. Egypt J Ear NoseThroat Allied Sci. 2014;15:271-4.

  10. Kartagener O. La patogenia de la bronquiectasia. Bronquiectasias y Situs inversus. 1933;83(4):489-501. Acceso: 09/08/2018. Disponible en: https://link.springer.com/article/10.1007 %2FBF02141468

  11. Lucas J. Diagnosis and management of primary ciliary dyskinesia.: Archives of Disease in Childhood. 2014;99(9):850-6. Acceso: 09/08/2018. Disponible en: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4145427/

  12. Lobo J. Primary ciliary dyskinesia: Semin Respir Crit Care Med. 2015;36(2):169-79. Acceso: 09/08/2018. Disponible en: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4873960/

  13. Lozano A. Las hermanas kartagener y la herencia ciliar discinética: Repositorio de la Universidad Nacional de Loja. 2016;1:1-5. Acceso: 04/08/2018. Disponible en: http://www.webcir.org/revistavirtual/articulos/2016/2_mayo/ecuador/hermanas_esp.pdf

  14. Walker WT, Jackson CL, Lackie PM, Hogg C, Lucas JS. Nitric oxide in primary ciliary dyskinesia. Eur Respir J. 2012;40(4):1024-32.

  15. Shapiro A, Davis SD, Ferkol T, Dell SD, Rosenfeld M, Olivier K, et al. Laterality defects other than situs inversus totalis in primary ciliary dyskinesia: insights into situs ambiguus and heterotaxy: Chest Journal. 2014;146(5):1176-86. Acceso: 04/08/2018. Disponible en: https://journal.chestnet.org/article/S0012-3692(15)52385-4/fulltext

  16. Yasuhara J. Primary ciliary dyskinesia diagnosed on nasal mucosal biopsy in two newborns: Pediatrics International. 2014;56(2):258-61. Acceso: 10/06/2018. Disponible en: https://onlinelibrary.wiley.com/doi/pdf/10.1111/ped.12268

  17. Cachipuendo CJ. Caso Clínico: Síndrome de kartagener EDOC- Repositorio de la Universidad Central del Ecuador, Escuela de Medicina. 2015;1:1-2. Acceso: 04/08/2018. Disponible en: https://edoc.site/sindrome-de-kartagener-1-3-pdf-free.html

  18. Aguirre L, Criollo G, Ordoñez L, Rojas C, Padilla F. Síndrome de Kartagener (Discinesia ciliar primaria) Presentación de caso. CEDAMAZ .2016;8:100-107. Acceso: 04/08/2018. Disponible en: http://revistas.unl.edu.ec/index.php/cedamaz/article/view/67/66

  19. González F. Síndrome de Kartagener: Elsevier. 2015;4(4):101-40. Acceso: 04/08/2018. Disponible en: http://www.elsevier.es/es-revista-medicina-general-familia-edicion-digital-- 231-articulo-sindrome-kartagener-S1889543315000389

  20. González JR, Síndrome de Kartagener en una adolescente. Medisan. 2016;20(3):359 Acceso: 04/08/2018. Disponible en: http://scielo.sld.cu/scielo.php?script=sci_arttext&pid=S1029-30192016000300012

  21. Alanin M. A longitudinal study of lung bacterial pathogens in patients with primary ciliary dyskinesia: Clinical Microbiology an Infection. 2015;21(12):1093-100. Acceso: 04/08/2018. Disponible en: https://www.clinicalmicrobiologyandinfection.com/article/S1198-743X(15)00806-X/fulltext

  22. Mirra V. Primary Ciliary Dyskinesia: An Update on Clinical Aspects Genetics, Diagnosis, and Future Treatment Strategies: Frontiers in Pedeatrics Pediatric Pulmonology. 2017;9(5):135. Acceso: 08/07/2018. Disponible en: https://www.frontiersin.org/articles/10.3389/fped.2017.00135/full

  23. Cao Y. Clinical analysis of patients with primary ciliary dyskinesia in mainland China: The Clinica,ll Respiratory Journal. 2016;10(6):765-71. Acceso: 08/07/2018. Disponible en: https://onlinelibrary.wiley.com/doi/abs/10.1111/crj.12284

  24. Hosie P. Presentation of primary ciliary dyskinesia in children: 30 years' experience: Journal of Paediatrics and Child Health. 2014;51(7):722-6. Acceso: 04/08/2018. Disponible en: https://onlinelibrary.wiley.com/doi/abs/10.1111/jpc.12791

  25. Rugină A. Primary ciliary dyskinesia diagnosed by electron microscopy in one case of Kartagener síndrome: Romanian Journal of Morphology & Embryology. 2014;55(2):697- 701. Acceso: 04/08/2018. Disponible en: http://www.rjme.ro/RJME/resources/files/551214697701.pdf

  26. Olbrich H, Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex.Am J Hum Genet. 2015;4:546-54. Acceso: 03/06/2018. Disponible en: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4596893/

  27. Mori K. A Case of Kartagener's Syndrome in Infertile Male Patients. Kyoto University Research Information Repository. 2015;61(12):509-13. Acceso: 04/08/2018. Disponible en: https://repository.kulib.kyoto-u.ac.jp/dspace/handle/2433/203137

  28. Sha Y. Management of primary ciliary dyskinesia/Kartagener's syndrome in infertile male patients and current progress in defining the underlying genetic mechanism: Asian Journal of Andrology. 2014;16(1):101-06. Acceso: 04/08/2018. Disponible en: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3901865/




2020     |     www.medigraphic.com