NEUMOLOGÍA PEDIÁTRICA

Neumol Pediatr 2019; 14 (2): 76 - 80 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 80 Diagnóstico de la discinecia ciliar primaria REFERENCIAS 1.- Farley H, Rubbo B, Bukowy-Bieryllo Z, Fassad M, Goutaki M, Harman K, et al. Proceedings of the 3rd BEAT- PCD Conference and 4th PCD Training School. BMC Proceedings 2018, 12(Suppl 16):64. 2.- Bush A, Hogg C. Primary ciliary dyskinesia: recent advances in epidemiology, diagnosis, management and relationship with the expanding spectrum of ciliopathy. Expert Rev Respir Med 2012; 6: 663–682. 3.- Mullowney T, Manson D, Kim R, Stephens D, Shah V, Dell S. Primary ciliary dyskinesia and neonatal respiratory distress. Pediatrics. 2014; 134(6):1160-6. 4.- Goutaki M, Meier AB, Halbeisen FS, Lucas JS, Dell SD, Maurer E, et al. Clinical manifestations in primary ciliary dyskinesia: Systematic review and metaanalysis. European Respiratory Journal. 2016;48:1081–95. 5.- Andersen TN, Alanin MC, von Buchwald C, Nielsen LH. A longitudinal evaluation of hearing and ventilation tube insertion in patients with primary ciliary dyskinesia. Int J Pediatr Otorrhinolaryngol 2016;89:164- 8. 6.- Shah A, Shoemark A, MacNeill SJ, Bhaludin B, Rogers A, Bilton D, et al. A longitudinal study characterising a large adult primary ciliary dyskinesia population. Eur Respir J. 2016; 48(2):441-50. 7.- Dettmer S, Ringshausen F, Vogel-Claussen J, Fuge J, Faschkami A , Shin H, et al. PLoS One 2018 Feb 6;13(2):e0191457. 8.- Vanaken GJ, Bassinet L, Boon M, Mani R, Honoré I, Papon JF, et al. Infertility in an adult cohort with primary ciliary dyskinesia: phenotype-gene association. ERJ 2017; 50(5) 1700314. 9.- Collins SA, Gove K, Walker W, Lucas JS. Nasal nitric oxide screening for primary ciliary dyskinesia: systematic review and meta-analysis. Eur Respir J. 2014; 44(6):1589-99. 10.- Lucas J, Barbato A , Collins SA, Goutaki M, Behan L, Caudri D, et al. European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia. 2017; 49(1): 1-47. 11.- Shoemark A, Lucas JS. Diagnosis of primary ciliary dyskinesia: current practice and future perspectives. In: Chalmers JD, Polverino E, Aliberti S, eds. Bronchiectasis (ERS Monograph). Sheffield, European Respiratory Society, 2018; pp. 267–281. 12.- Papon JF, Bassinet L, Cariou-Patron G, Zerah-Lancner, Vojtek AM, Blanchon S, et al.Quantitative analysis of ciliary beating in primary ciliary dyskinesia: a pilot study. Orphanet J Rare Dis. 2012; Oct 11;7:78. 13.- 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. 14.- Rubbo B, Shoemark A, Jackson CL, Hirst R, Thompson J, Hayes J,, et al. Accuracy of High-Speed Video Analysis to Diagnose Primary Ciliary Dyskinesia. Chest 2019 Feb 28. pii: S0012-3692(19)30205-3. 15.- Rumman N, Jackson C, Collins S, Goggin P, Coles J y Lucas JS. Diagnosis of primary ciliary dyskinesia: potential options for resource-limited countries. Eur Respir Rev. 2017 Jan 17;26(143). Figura 6. Algoritmo diagnóstico para la dicinesia ciliar primaria (1). DCP: discinecia ciliar primaria, ONN: óxido nítrico nasal, VMAV: videomicroscopía alta velocidad, ME: microscopía electronica