Ramírez NC, Hernández SI

Idioma: Español
Referencias bibliográficas: 21
Paginas: 199-205
Archivo PDF: 466.91 Kb.

RESUMEN

La fibrosis quística (FQ) es una enfermedad de afectación multisistémica, con herencia autosómica recesiva, causada por una mutación en un gen que codifica para la proteína CTFR, el cual actúa principalmente como canal de cloruro; presenta también otras funciones tales como inhibir el transporte de sodio en los canales epiteliales de éste, regulación de los canales de ATP, funciones en el intercambio de bicarbonatocloruro, entre otros. Esta revisión se enfoca en las nuevas tendencias de tratamiento a nivel neumológico así como el diagnóstico.

REFERENCIAS (EN ESTE ARTÍCULO)

1. Bonestroo H, Winter-de Groot K, Van der Ent C, Arets H. Upper and lower airway cultures in children with cystic fibrosis: Do not neglect the upper airways. J Cyst Fibros 2010; 9: 130–4.

2. Boussaud V, Guillemain R, Grenet D, Coley N, Souilamas R, Bonnette P, Stern M. Clinical outcome following lung transplantation in patients with cystic fi-brosis colonised with Burkholderia cepa-cia complex: results from two French centres. Thorax, 2008; 63: 732-7.

3. Castellani C, Southern K. European best practice guidelines for cystic fibrosis neonatal screening. J Cyst Fibros 2009; 8: 153–173.

4. Culling B, Ogle R. Genetic Counselling Issues in Cystic Fibrosis. Paediatr Respir Rev 2010; 11: 75–9.

5. Donaldson S, Bennett W, Zeman K, Knowles M, Tarran R. Mucus clearance and lung function in cystic fibrosis with hypertonic saline. NEJM 2006; 354: 241–50.

6. Konstan M, Byard P, Hoppel C, Davis P. Effect of high-dose ibuprofen in patients with cystic fibrosis. NEJM 1995; 332: 848–54.

7. Kreindler J. Cystic fibrosis: Exploiting its genetic basis in the hunt for new therapies. Pharmacol Ther 2010; 125: 219–29.

8. Liou T, Elkin E, Pasta D, Jacobs J, Konstan M. Year-to-year changes in lung function in individuals with cystic fibrosis. J Cyst Fibros 2010; 9: 250–6.

9. Mordant P, Bonnette P. Advances in lung transplantation for cystic fibrosis that may improve outcome. EJCTS 2010; 1-7.

10. O’Sullivan B, Freedman S. Cystic Fibrosis. Lancet 2009; 373: 1891–1904.

11. Rock M. Newborn Screening for Cystic Fibrosis. Clin Chest Med 2007; 28: 297–305.

12. Saiman L, Marshall B, Mayer-Hamblett N. Azithromycin in patients with cystic fibrosis chronically infected with Pseudomonas aeruginosa: a randomized controlled trial. JAMA 2003; 290: 1749–56.

13. Salvatore D, Buzzetti R. An overview of international literature from cystic fibrosis registries 2. Neonatal screening and nutrition/growth. J Cyst Fibros 2010; 9: 75–83.

14. Schelstraete P. Genotype based evaluation of Pseudomonas aeruginosa eradication treatment success in cystic fibrosis patients. J Cyst Fibros 2010; 99–103.

15. Seia M, Costantino L. Borderline sweat test: Utility and limits of genetic analysis for the diagnosis of cystic fibrosis. Clin Biochem 2009; 42: 611–6.

16. Sermet-Gaudelus I, Mayell S, Southern K. Guidelines on the early management of infants diagnosed with cystic fibrosis following newborn screening. J Cyst Fibros 2010; 9: 323–9.

17. Sims E, McCormick J, Mehta G, Mehta A. Newborn screening for cystic fibrosis is associated with reduced treatment intensity. J Pediatr 2005; 147: 306–11.

18. Stutman H, Lieberman J, Nussbaum E, Marks M. Antibiotic prophylaxis in infants and young children with cystic fibrosis: a randomized controlled trial. J Pediatr 2002; 140: 299–305.

19. Vrankrijker A. Challenging and emerging pathogens in cystic fibrosis. Paediatr Respir Rev 2010; 11: 246-54.

20. Wilcken B, Wiley V. Newborn screening methods for cystic fibrosis. Paediatr Respir Rev 2003; 4: 272–7.

21. Yousef A, Jaffe A. The Role of Azithromycin in Patients with Cystic Fibrosis. Paediatr Respir Rev 2010; 11: 108–14.