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Primary ciliary dyskinesia diagnosis management in low-resource setting, a practical approach Cover

Primary ciliary dyskinesia diagnosis management in low-resource setting, a practical approach

Open Access
|May 2024

References

  1. Bukowy-Bieryllo Z, Witt M, Zietkiewicz E. Perspectives for Primary Ciliary Dyskinesia. Int J Mol Sci. 2022 Apr 8;23(8):4122. doi: 10.3390/ijms23084122.
  2. Kuehni CE, Lucas JS. Diagnosis of primary ciliary dyskinesia: summary of the ERS Task Force report. Breathe (Sheff). 2017 Sep;13(3):166–178. doi: 10.1183/20734735.008517.
  3. Goutaki M, Shoemark A. Diagnosis of Primary Ciliary Dyskinesia. Clin Chest Med. 2022 Mar;43(1):127–140. doi: 10.1016/j. ccm.2021.11.008.
  4. Butterfield R. Primary Ciliary Dyskinesia. Pediatr Rev. 2017 Mar;38(3):145–146. doi: 10.1542/pir.2016-0108.
  5. Horani A, Ferkol TW. Understanding Primary Ciliary Dyskinesia and Other Ciliopathies. J Pediatr. 2021 Mar;230:15–22.e1. doi: 10.1016/j.jpeds.2020.11.040.
  6. Lucas JS, Davis SD, Omran H, Shoemark A. Primary ciliary dyskinesia in the genomics age. Lancet Respir Med. 2020 Feb;8(2):202–216. doi: 10.1016/S2213-2600(19)30374-1.
  7. Paff T, Omran H, Nielsen KG, Haarman EG. Current and Future Treatments in Primary Ciliary Dyskinesia. Int J Mol Sci. 2021 Sep 11;22(18):9834. doi: 10.3390/ijms22189834.
  8. Al-Mutairi DA, Alsabah BH, Alkhaledi BA, Pennekamp P, Omran H. Identification of a novel founder variant in DNAI2 cause primary ciliary dyskinesia in five consanguineous families derived from a single tribe descendant of Arabian Peninsula. Front Genet. 2022 Oct 10;13:1017280. doi: 10.3389/fgene.2022.1017280.
  9. Hammoudeh S, Gadelhak W, Janahi IA. Primary ciliary dyskinesia among Arabs: Where do we go from here? Paediatr Respir Rev. 2019 Feb;29:19–22. doi: 10.1016/j.prrv.2018.09.002.
  10. Leigh MW, Pittman JE, Carson JL, Ferkol TW, Dell SD, Davis SD, Knowles MR, Zariwala MA. Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome. Genet Med. 2009 Jul;11(7):473–87. doi: 10.1097/GIM.0b013e3181a53562.
  11. Lucas JS, Barbato A, Collins SA, Goutaki M, Behan L, Caudri D, Dell S, Eber E, Escudier E, Hirst RA, Hogg C, Jorissen M, Latzin P, Legendre M, Leigh MW, Midulla F, Nielsen KG, Omran H, Papon JF, Pohunek P, Redfern B, Rigau D, Rindlisbacher B, Santamaria F, Shoemark A, Snijders D, Tonia T, Titieni A, Walker WT, Werner C, Bush A, Kuehni CE. European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia. Eur Respir J. 2017 Jan 4;49(1):1601090. doi: 10.1183/13993003.01090-2016.
  12. Hosie P, Fitzgerald DA, Jaffe A, Birman CS, Morgan L. Primary ciliary dyskinesia: overlooked and undertreated in children. J Paediatr Child Health. 2014 Dec;50(12):952–8. doi: 10.1111/jpc.12628.
  13. Kouis P, Yiallouros PK, Middleton N, Evans JS, Kyriacou K, Papatheodorou SI. Prevalence of primary ciliary dyskinesia in consecutive referrals of suspect cases and the transmission electron microscopy detection rate: a systematic review and meta-analysis. Pediatr Res. 2017 Mar;81(3):398–405. doi: 10.1038/pr.2016.263.
  14. Brennan SK, Ferkol TW, Davis SD. Emerging Genotype-Phenotype Relationships in Primary Ciliary Dyskinesia. Int J Mol Sci. 2021 Jul 31;22(15):8272. doi: 10.3390/ijms22158272.
  15. Hogg C. Primary ciliary dyskinesia: when to suspect the diagnosis and how to confirm it. Paediatr Respir Rev. 2009 Jun;10(2):44–50. doi: 10.1016/j.prrv.2008.10.001.
  16. Shapiro AJ, Zariwala MA, Ferkol T, Davis SD, Sagel SD, Dell SD, Rosenfeld M, Olivier KN, Milla C, Daniel SJ, Kimple AJ, Manion M, Knowles MR, Leigh MW; 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. doi: 10.1002/ppul.23304.
  17. Behan L, Dimitrov BD, Kuehni CE, Hogg C, Carroll M, Evans HJ, Goutaki M, Harris A, Packham S, Walker WT, Lucas JS. PICADAR: a diagnostic predictive tool for primary ciliary dyskinesia. Eur Respir J. 2016 Apr;47(4):1103–12. doi: 10.1183/13993003.01551-2015.
  18. Leigh MW, Ferkol TW, Davis SD, Lee HS, Rosenfeld M, Dell SD, Sagel SD, Milla C, Olivier KN, Sullivan KM, Zariwala MA, Pittman JE, Shapiro AJ, Carson JL, Krischer J, Hazucha MJ, Knowles MR. Clinical Features and Associated Likelihood of Primary Ciliary Dyskinesia in Children and Adolescents. Ann Am Thorac Soc. 2016 Aug;13(8):1305–13. doi: 10.1513/AnnalsATS.201511-748OC.
  19. Martinů V, Bořek-Dohalská L, Varényiová Ž, Uhlík J, Čapek V, Pohunek P, Koucký V. Evaluation of a Clinical Index as a Predictive Tool for Primary Ciliary Dyskinesia. Diagnostics (Basel). 2021 Jun 14;11(6):1088. doi: 10.3390/diagnostics11061088.
  20. Stanley P, MacWilliam L, Greenstone M, Mackay I, Cole P. Efficacy of a saccharin test for screening to detect abnormal mucociliary clearance. Br J Dis Chest. 1984 Jan;78(1):62–5. PMID: 6691910.
  21. 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. doi: 10.1002/ppul.1950050406.
  22. Postema MC, Carrion-Castillo A, Fisher SE, Vingerhoets G, Francks C. The genetics of situs inversus without primary ciliary dyskinesia. Sci Rep. 2020 Feb 28;10(1):3677. doi: 10.1038/s41598-020-60589-z.
  23. Dülger S, Akdeniz Ö, Solmaz F, Şengören Dikiş Ö, Yildiz T. Evaluation of nasal mucociliary clearance using saccharin test in smokers: A prospective study. Clin Respir J. 2018 Apr;12(4):1706–1710. doi: 10.1111/crj.12733.
  24. Deitmer T. A modification of the saccharine test for nasal mucociliary clearance. Rhinology. 1986 Dec;24(4):237–40. PMID: 3823746.
  25. Kamani T, Yilmaz T, Surucu S, Turan E, Brent KA. Scanning electron microscopy of ciliae and saccharine test for ciliary function in septal deviations. Laryngoscope. 2006 Apr;116(4): 586–90. doi: 10.1097/01.MLG.0000205608.50526.28.
  26. Caponnetto P, Emma R, Benfatto F, Ferlito S, Gulino A, Maniaci A, Lechien JR, Ingrassia A, Cocuzza S, Polosa R. Saccharin test: Methodological validation and systematic review of the literature. Ear Nose Throat J. 2021 Dec 16:1455613211064044. doi: 10.1177/01455613211064044.
  27. Lucas JS, Alanin MC, 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 Oct;11(10):779–790. doi: 10.1080/17476348.2017.1360770.
  28. Learn about Primary Ciliary Dyskinesia. In American Lung Association site www.lung.org/lung-health-diseases/lung- disease-lookup/primary-ciliary-dyskinesia/learn-about-pri- mary-ciliary-dyskinesia, accessed in 27th December 2023.
DOI: https://doi.org/10.2478/pneum-2023-0034 | Journal eISSN: 2247-059X | Journal ISSN: 2067-2993
Language: English
Page range: 122 - 130
Published on: May 2, 2024
Published by: Romanian Society of Pneumology
In partnership with: Paradigm Publishing Services
Publication frequency: Volume open

© 2024 Andreea Dumitroae, Ion Alexandru Voropanov, Ramona Elena Slăvulete, Valentina-Daniela Comănici, Mihai Craiu, Iustina Violeta Stan, published by Romanian Society of Pneumology
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 License.