Have a personal or library account? Click to login
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

Pneumologia
Volume 71 (2022): Issue 3 (October 2022)
By:
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: <a href="https://doi.org/10.3390/ijms23084122." target="_blank" rel="noopener noreferrer" class="text-signal-blue hover:underline">10.3390/ijms23084122.</a>
    Open DOISearch in Google ScholarBack to article
  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: <a href="https://doi.org/10.1183/20734735.008517." target="_blank" rel="noopener noreferrer" class="text-signal-blue hover:underline">10.1183/20734735.008517.</a>
    Open DOISearch in Google ScholarBack to article
  3. Goutaki M, Shoemark A. Diagnosis of Primary Ciliary Dyskinesia. Clin Chest Med. 2022 Mar;43(1):127–140. doi: <a href="https://doi.org/10.1016/j." target="_blank" rel="noopener noreferrer" class="text-signal-blue hover:underline">10.1016/j.</a> ccm.2021.11.008.
    Open DOISearch in Google ScholarBack to article
  4. Butterfield R. Primary Ciliary Dyskinesia. Pediatr Rev. 2017 Mar;38(3):145–146. doi: <a href="https://doi.org/10.1542/pir.2016-0108." target="_blank" rel="noopener noreferrer" class="text-signal-blue hover:underline">10.1542/pir.2016-0108.</a>
    Open DOISearch in Google ScholarBack to article
  5. Horani A, Ferkol TW. Understanding Primary Ciliary Dyskinesia and Other Ciliopathies. J Pediatr. 2021 Mar;230:15–22.e1. doi: <a href="https://doi.org/10.1016/j.jpeds.2020.11.040." target="_blank" rel="noopener noreferrer" class="text-signal-blue hover:underline">10.1016/j.jpeds.2020.11.040.</a>
    Open DOISearch in Google ScholarBack to article
  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: <a href="https://doi.org/10.1016/S2213-2600(19)30374-1." target="_blank" rel="noopener noreferrer" class="text-signal-blue hover:underline">10.1016/S2213-2600(19)30374-1.</a>
    Open DOISearch in Google ScholarBack to article
  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: <a href="https://doi.org/10.3390/ijms22189834." target="_blank" rel="noopener noreferrer" class="text-signal-blue hover:underline">10.3390/ijms22189834.</a>
    Open DOISearch in Google ScholarBack to article
  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: <a href="https://doi.org/10.3389/fgene.2022.1017280." target="_blank" rel="noopener noreferrer" class="text-signal-blue hover:underline">10.3389/fgene.2022.1017280.</a>
    Open DOISearch in Google ScholarBack to article
  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: <a href="https://doi.org/10.1016/j.prrv.2018.09.002." target="_blank" rel="noopener noreferrer" class="text-signal-blue hover:underline">10.1016/j.prrv.2018.09.002.</a>
    Open DOISearch in Google ScholarBack to article
  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: <a href="https://doi.org/10.1097/GIM.0b013e3181a53562." target="_blank" rel="noopener noreferrer" class="text-signal-blue hover:underline">10.1097/GIM.0b013e3181a53562.</a>
    Open DOISearch in Google ScholarBack to article
  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: <a href="https://doi.org/10.1183/13993003.01090-2016." target="_blank" rel="noopener noreferrer" class="text-signal-blue hover:underline">10.1183/13993003.01090-2016.</a>
    Open DOISearch in Google ScholarBack to article
  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: <a href="https://doi.org/10.1111/jpc.12628." target="_blank" rel="noopener noreferrer" class="text-signal-blue hover:underline">10.1111/jpc.12628.</a>
    Open DOISearch in Google ScholarBack to article
  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: <a href="https://doi.org/10.1038/pr.2016.263." target="_blank" rel="noopener noreferrer" class="text-signal-blue hover:underline">10.1038/pr.2016.263.</a>
    Open DOISearch in Google ScholarBack to article
  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: <a href="https://doi.org/10.3390/ijms22158272." target="_blank" rel="noopener noreferrer" class="text-signal-blue hover:underline">10.3390/ijms22158272.</a>
    Open DOISearch in Google ScholarBack to article
  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: <a href="https://doi.org/10.1016/j.prrv.2008.10.001." target="_blank" rel="noopener noreferrer" class="text-signal-blue hover:underline">10.1016/j.prrv.2008.10.001.</a>
    Open DOISearch in Google ScholarBack to article
  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: <a href="https://doi.org/10.1002/ppul.23304." target="_blank" rel="noopener noreferrer" class="text-signal-blue hover:underline">10.1002/ppul.23304.</a>
    Open DOISearch in Google ScholarBack to article
  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: <a href="https://doi.org/10.1183/13993003.01551-2015." target="_blank" rel="noopener noreferrer" class="text-signal-blue hover:underline">10.1183/13993003.01551-2015.</a>
    Open DOISearch in Google ScholarBack to article
  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: <a href="https://doi.org/10.1513/AnnalsATS.201511-748OC." target="_blank" rel="noopener noreferrer" class="text-signal-blue hover:underline">10.1513/AnnalsATS.201511-748OC.</a>
    Open DOISearch in Google ScholarBack to article
  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: <a href="https://doi.org/10.3390/diagnostics11061088." target="_blank" rel="noopener noreferrer" class="text-signal-blue hover:underline">10.3390/diagnostics11061088.</a>
    Open DOISearch in Google ScholarBack to article
  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.
    Search in Google ScholarBack to article
  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: <a href="https://doi.org/10.1002/ppul.1950050406." target="_blank" rel="noopener noreferrer" class="text-signal-blue hover:underline">10.1002/ppul.1950050406.</a>
    Open DOISearch in Google ScholarBack to article
  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: <a href="https://doi.org/10.1038/s41598-020-60589-z." target="_blank" rel="noopener noreferrer" class="text-signal-blue hover:underline">10.1038/s41598-020-60589-z.</a>
    Open DOISearch in Google ScholarBack to article
  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: <a href="https://doi.org/10.1111/crj.12733." target="_blank" rel="noopener noreferrer" class="text-signal-blue hover:underline">10.1111/crj.12733.</a>
    Open DOISearch in Google ScholarBack to article
  24. Deitmer T. A modification of the saccharine test for nasal mucociliary clearance. Rhinology. 1986 Dec;24(4):237–40. PMID: 3823746.
    Search in Google ScholarBack to article
  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: <a href="https://doi.org/10.1097/01.MLG.0000205608.50526.28." target="_blank" rel="noopener noreferrer" class="text-signal-blue hover:underline">10.1097/01.MLG.0000205608.50526.28.</a>
    Open DOISearch in Google ScholarBack to article
  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: <a href="https://doi.org/10.1177/01455613211064044." target="_blank" rel="noopener noreferrer" class="text-signal-blue hover:underline">10.1177/01455613211064044.</a>
    Open DOISearch in Google ScholarBack to article
  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: <a href="https://doi.org/10.1080/17476348.2017.1360770." target="_blank" rel="noopener noreferrer" class="text-signal-blue hover:underline">10.1080/17476348.2017.1360770.</a>
    Open DOISearch in Google ScholarBack to article
  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.
    Search in Google ScholarBack to article
DOI: https://doi.org/10.2478/pneum-2023-0034 | Journal eISSN: 2247-059X | Journal ISSN: 2067-2993
Journal RSS Feed
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: 1 times per year
Keywords:
Primary ciliary dyskinesia,
Kartagener syndrome,
situs inversus,
saccharin test,
ciliopathy
Related subjects:
Medicine,
Clinical medicine,
Clinical medicine, other,
Internal medicine,
Pneumology

© 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.

Previous articleVolume 71 (2022): Issue 3 (October 2022)Next article