Publicado ene 1, 2017



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Daniela Gutiérrez Zuñiga

Daniel Solarte Bothe

Carlos Celis Preciado

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Resumen

El síndrome de Kartagener es una enfermedad autosómica recesiva poco frecuente (uno de cada 32.000 nacimientos), caracterizada por la tríada de bronquiectasias, sinusitis crónica y situs inversus. El artículo presenta el caso de un hombre de veinticuatro años de edad con dicha enfermedad, a partir del cual se revisa su fisiopatología, las estrategias diagnósticas y terapéuticas y su pronóstico.

Keywords

Kartagener syndrome, primary ciliary dyskinesia, situs inversus.síndrome de Kartagener, discinesia ciliar primaria, situs inversus

References
1. Bush A, Chodhari R, Collins N, Copeland F, Hall P, Harcourt J, et al. Primary ciliary dyskinesia: Current state of the art. Arch Dis Child. 2007;92:1136-40.
2. Knowles MR, Daniels LA, Davis SD, Zariwala MA, Leigh MW. Primary ciliary dyskinesia: Recent advances in diagnostics, genetics, and characterization of clinical disease. Am J Respir Crit Care Med. 2013;188:913-22.
3. Ciancio N, de Santi MM, Campisi R, Amato L, Di Martino G, Di Maria G. Kartagener’s syndrome: review of a case series. Multidiscip Respir Med. 2015;10(1):18.
4. Bush A, Cole P, Hariri M, Mackay I, Phillips G, O’Callaghan C, et al. Primary ciliary dyskinesia: Diagnosis and standards of care. Eur Respir J. 1998;12(4):982-8.
5. Horani A, Ferkol TW. Primary ciliary dyskinesia and associated sensory ciliopathies. Expert Rev Respir Med. 2016;10(5):569-76.
6. Leigh MW, Pittman JE, Carson JL, Ferkol TW, Dell SD, Davis SD, et al. Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome. Genet Med. 2009;11(7):473-87.
7. Afzelius BA. Cilia-related diseases. J Pathol. 2004;204:470-7.
8. Sagel SD, Davis SD, Campisi P, Dell SD. Update of respiratory tract disease in children with primary ciliary dyskinesia. Proc Am Thorac Soc. 2011;8(5):438-43.
9. Munro NC, Currie DC, Lindsay KS, Ryder TA, Rutman A, Dewar A, et al. Fertility in men with primary ciliary dyskinesia presenting with respiratory infection. Thorax 1994;49(7):684-7.
10. Walker WT, Jackson CL, Lackie PM, Hogg C, Lucas JS. Nitric oxide in primary ciliary dyskinesia. Eur Respir J. 2012;40(4):1024-32.
11. Wodehouse T, Kharitonov S a., Mackay IS, Barnes PJ, Wilson R, Cole PJ. Nasal nitric oxide measurements for the screening of primary ciliary dyskinesia. Eur Respir J. 2003;21:43-7.
12. Leigh MW, Hazucha MJ, Chawla KK, Baker BR, Shapiro AJ, Brown DE, et al. Standardizing nasal nitric oxide measurement as a test for primary ciliary dyskinesia. Ann Am Thorac Soc. 2013;10(6):574-81.
13. Canciani M, Barlocco EG, Mastella G, de Santi MM, Gardi C, Lungarella G. The saccharin method for testing mucociliary function in patients suspected of having primary ciliary dyskinesia. Pediatr Pulmonol. 1988;5(4):210-4.
14. Popatia R, Haver K, Casey A. Primary Ciliary Dyskinesia: An update on new diagnostic modalities and review of the literature. Pediatr Allergy Immunol Pulmonol. 2014;27(2):51-9.
15. Jackson CL, Behan L, Collins SA, Goggin PM, Adam EC, Coles JL, et al. Accuracy of diagnostic testing in primary ciliary dyskinesia. Eur Respir J. 2016 Mar;47(3):837-48. doi: 10.1183/13993003.00749-2015
1. Bush A, Chodhari R, Collins N, Copeland F, Hall P, Harcourt J, et al. Primary ciliary dyskinesia: Current state of the art. Arch Dis Child. 2007;92:1136-40.
2. Knowles MR, Daniels LA, Davis SD, Zariwala MA, Leigh MW. Primary ciliary dyskinesia: Recent advances in diagnostics, genetics, and characterization of clinical disease. Am J Respir Crit Care Med. 2013;188:913-22.
3. Ciancio N, de Santi MM, Campisi R, Amato L, Di Martino G, Di Maria G. Kartagener’s syndrome: review of a case series. Multidiscip Respir Med. 2015;10(1):18.
4. Bush A, Cole P, Hariri M, Mackay I, Phillips G, O’Callaghan C, et al. Primary ciliary dyskinesia: Diagnosis and standards of care. Eur Respir J. 1998;12(4):982-8.
5. Horani A, Ferkol TW. Primary ciliary dyskinesia and associated sensory ciliopathies. Expert Rev Respir Med. 2016;10(5):569-76.
6. Leigh MW, Pittman JE, Carson JL, Ferkol TW, Dell SD, Davis SD, et al. Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome. Genet Med. 2009;11(7):473-87.
7. Afzelius BA. Cilia-related diseases. J Pathol. 2004;204:470-7.
8. Sagel SD, Davis SD, Campisi P, Dell SD. Update of respiratory tract disease in children with primary ciliary dyskinesia. Proc Am Thorac Soc. 2011;8(5):438-43.
9. Munro NC, Currie DC, Lindsay KS, Ryder TA, Rutman A, Dewar A, et al. Fertility in men with primary ciliary dyskinesia presenting with respiratory infection. Thorax 1994;49(7):684-7.
10. Walker WT, Jackson CL, Lackie PM, Hogg C, Lucas JS. Nitric oxide in primary ciliary dyskinesia. Eur Respir J. 2012;40(4):1024-32.
11. Wodehouse T, Kharitonov S a., Mackay IS, Barnes PJ, Wilson R, Cole PJ. Nasal nitric oxide measurements for the screening of primary ciliary dyskinesia. Eur Respir J. 2003;21:43-7.
12. Leigh MW, Hazucha MJ, Chawla KK, Baker BR, Shapiro AJ, Brown DE, et al. Standardizing nasal nitric oxide measurement as a test for primary ciliary dyskinesia. Ann Am Thorac Soc. 2013;10(6):574-81.
13. Canciani M, Barlocco EG, Mastella G, de Santi MM, Gardi C, Lungarella G. The saccharin method for testing mucociliary function in patients suspected of having primary ciliary dyskinesia. Pediatr Pulmonol. 1988;5(4):210-4.
14. Popatia R, Haver K, Casey A. Primary Ciliary Dyskinesia: An update on new diagnostic modalities and review of the literature. Pediatr Allergy Immunol Pulmonol. 2014;27(2):51-9.
15. Jackson CL, Behan L, Collins SA, Goggin PM, Adam EC, Coles JL, et al. Accuracy of diagnostic testing in primary ciliary dyskinesia. Eur Respir J. 2016 Mar;47(3):837-48. doi: 10.1183/13993003.00749-2015
16. Barbato A, Frischer T, Kuehni CE, Snijders D, Azevedo I, Baktai G, et al. Primary ciliary dyskinesia: A consensus statement on diagnostic and treatment approaches in children. Eur Respir J. 2009 Dec;34(6):1264-76. doi: 10.1183/09031936.00176608
17. Ellerman A, Bisgaard H. Longitudinal study of lung function in a cohort of primary ciliary dyskinesia. Eur Respir J. 1997;10(10):2376-9.
18. Marthin JK, Petersen N, Skovgaard LT, Nielsen KG. Lung function in patients with primary ciliary dyskinesia: A cross-sectional and 3-decade longitudinal study. Am J Respir Crit Care Med. 2010;181(11):1262-8.
Cómo citar
Gutiérrez Zuñiga, D., Solarte Bothe, D., & Celis Preciado, C. (2017). Síndrome de Kartagener: reporte de un caso y revisión de la literatura. Universitas Medica, 58(1). https://doi.org/10.11144/Javeriana.umed58-1.kart
Sección
Reportes de caso

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