NEUMOLOGÍA PEDIÁTRICA

Neumol Pediatr 2019; 14 (2): 81 - 85 C o n t e n i d o d i s p o n i b l e e n h t t p : / / www. n e umo l o g i a - p e d i a t r i c a . cl 84 Tratamiento de la discinesia ciliar primaria enfermedad (32). Estamos, por ello, en una etapa emocionante en la que el mejor conocimiento de la genética y fenotipado de la DCP, puede conducir al desarrollo de nuevas estrategias terapéuticas. Sin embargo, la heterogeneidad genética de la DCP causada por mutaciones en más de 30 genes, muchos aún no identificados, dificulta el desarrollo de terapias capaces de corregir el defecto básico de la enfermedad, o de restaurar la función de proteínas defectuosas, como ocurre en la FQ. De cualquier modo, recientemente un grupo de investigadores ha logrado aplicar por vez primera la "edición de genes" en esta patología, restaurando la función del gen DNAH11 ex vivo y reemplazando la mutación inactivadora por una secuencia de tipo salvaje en la célula enferma (33), lo que abre nuevas vías al tratamiento de la PCD. Declaración de conflicto de intereses La Dra. Amparo Escribano declara no tener ningún conflicto de intereses. REFERENCIAS 1. Strippoli MP, Frischer T, Barbato A, Snijders D, Maurer E, Lucas JSA, et al, for the ERS Task Force on primary ciliary dyskinesia in children. Management of primary ciliary dyskinesia in European children: recommendations and clinical practice. Eur Respir J. 2012; 39: 1482–1491. 2. Kuehni CE., Goutaki M, Rubbo B, Lucas J. Management of primary ciliary dyskinesia: current practice and future perspectives. Eur Respir Monogr 2018; 81: 282–299. 3. Lucas JS, Alanin M Ch, Collins S, Harris A, Johansen HK, Nielsen KG, Papon JF, Robinson P & Walker WT. Clinical care of children with primary ciliary dyskinesia, Expert Rev Respir Med, 2017; 11:10, 779-790. 4. 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; 34: 1264–76. 5. Shapiro AJ, Zariwala MA, Ferkol T, Davis SD, Sagel SD, Dell SD, et al. Genetic Disorders of Mucociliary Clearance Consortium. Diagnosis, monitoring, and treatment of primary ciliary dyskinesia: PCD foundation consensus recommendations based on state of the art review. Pediatr Pulmonol. 2016 Feb. 51 (2):115-32. 6. Cohen-Cymberknoh M, Simanovsky N, Hiller N, Hillel AG, Shoseyov D, Kerem E. Differences in disease expression between primary ciliary dyskinesia and cystic fibrosis with and without pancreatic insufficiency. Chest. 2014; 145(4):738-744. 7. Lucas JS, Carroll M. Primary Ciliary Dyskinesia and Cystic Fibrosis: Different Diseases Require Different Treatment. Chest 2014; 145 (4): 674-76. 8. Kuehni CE, Frischer T, Strippoli MP, Maurer E, Bush A, Nielsen KG, et al; ERS Task Force on Primary Ciliary Dyskinesia in Children. Factors influencing age at diagnosis of primary ciliary dyskinesia in European children. Eur Respir J. 2010;36(6):1248–1258. 9. Werner C, Lablans M, Ataian M, Raidt J, Wallmeier J, Große-Onnebrink J, et al. An international registry for primary ciliary dyskinesia. Eur Respir J. 2016;47(3):849– 859. 10. Goutaki M, Maurer E, Halbeisen FS, Amirav I, Barbato A, Behan L, et al, on behalf of the PCD Italian Consortium, on behalf of the Swiss PCD Group, on behalf of the French Reference Centre for Rare Lung Diseases, on behalf of the Genetic Disorders of Mucociliary Clearance Consortium. The international primary ciliary dyskinesia cohort (IPCD Cohort): methods and first results. Eur Respir J. 2017; 49(1): 1-10. 11. Kobbernagel HE, Buchvald FF, Haarman EG, Casaulta C, Collins SA, et al. Study protocol, rationale and recruitment in a European multi-centre randomized controlled trial to determine the efficacy and safety of azithromycin maintenance therapy for 6 months in primary ciliary dyskinesia. BMC Pulm Med (2016) 16:104: 1-11. 12. Behan L, Leigh MW, Dell SD, Dunn Galvin A, Quittner AL, Lucas JS. Validation of a health-related quality of life instrument for primary ciliary dyskinesia (QOL-PCD). Thorax. 2017 Sep; 72(9):832-839. 13. Lucas JS, Behan L, Dunn Galvin A, Alpern A, Morris AM, Carroll MP, et al. A quality-of-life measure for adults with primary ciliary dyskinesia: QOL-PCD. Eur Respir J. 2015; 46(2):375–383. 14. Goutaki M, Halbeisen FS, Spycher BD, Maurer E, Belle F, Amirav I, et al; PCD Israeli Consortium; Swiss PCD Group; French Reference Centre for Rare Lung Diseases. Growth and nutritional status, and their association with lung function: a study from the international Primary Ciliary Dyskinesia Cohort. Eur RespirJ 2017 50: 1701659. 15. Mirra V, Caffarelli C, Maglione M, Valentino R, Perruolo G, Mazzarella C, et al. Hypovitaminosis D: a novel finding in primary ciliary dyskinesia. Ital J Pediatr 2015; 41: 14- 19. 16. Schofield LM, Duff A, Brennan C. Airway clearance techniques for primary ciliary dyskinesia; is the cystic fibrosis literature portable? Paediatr Respir Rev 2018; 25: 73–77. 17. Polineni D, Davis SD, Dell SD. Treatment recommendations in Primary Ciliary Dyskinesia. Paediatr Respir Rev. 2016; 18:39–45. 18. Phillips GE, Thomas S, Heather S, Bush A. Airway response of children with primary ciliary dyskinesia to exercise and beta 2-agonist challenge. Eur Respir J 1998; 11: 1389–91. 19. Hart A, Sugumar K, Milan SJ, Fowler SJ, Crossingham I. Inhaled hyperosmolar agents for bronchiectasis. Cochrane Database Syst Rev (2014) 5: CD002996.10.1002/14651858.CD002996.pub3. 20. Paff T, Daniels JM, Weersink EJ, Lutter R, Vonk Noordegraaf A, Haarman EG. A randomised controlled trial on the effect of inhaled hypertonic saline on quality of life in primary ciliary dyskinesia. Eur Respir J. 2017 Feb 23; 49(2). pii: 1601770. doi: 10.1183/13993003.01770-