Research Article

A Case of Primary Ciliary Aplasia Diagnosed by Nasal Biopsy

Volume: 8 Number: 2 August 31, 2025
  • Pablo Melgarejo-Moreno
  • Javier Galindo-Ortego
  • Antonio Ruiz-Giner
European Journal of Rhinology and Allergy Cover
European Journal of Rhinology and Allergy
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A Case of Primary Ciliary Aplasia Diagnosed by Nasal Biopsy

Abstract

Primary ciliary aplasia is a rare congenital disease that alters normal function of the mucociliary apparatus. Patients generally present with severe, recurrent, or chronic airway infection. This report describes the ultrastructural alterations observed in the nasal mucosa of a 30-year-old female patient who has suffered from chronic upper and lower respiratory tract infections since childhood. These ultrastructural features are consistent with complete ciliary aplasia, a rare form of primary ciliary dyskinesia. A high degree of suspicion for this disorder is mandatory for accurate diagnosis and prompt treatment. A careful description of the diagnostic procedures and treatment of this extremely rare disorder has been provided.

Keywords

References

  1. 1. Bhatt JM, Muhonen EG, Meier M, Sagel SD, Chan KH. Rhinosinusitis in Pediatric Primary Ciliary Dyskinesia: Impact of Disease. Otolaryngol Head Neck Sur2g 2019;161:877-880.
  2. 2. Kazuhiko Takeuchi, Miki Abo, Hiroshi Date, et al. Practical guide for the diagnosis and management of primary ciliary dyskinesia. Auris Nasus Larynx 2024;51(3):553-556.
  3. 3. Despotes KA, Zariwala MA, Davis SD, Ferkol TW. Primary Ciliary Dyskinesia: A Clinical Review. Cells 2024; 4(11):974-1001.
  4. 4. Dodd DO, Mechaussier S, Yeyati PL, et al. Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules. Science 2024;26;384-429.
  5. 5. Chaskes MB, Lopez EM, Kong KA, et al. Primary ciliary dyskinesia: An update on contemporary diagnosis. Int Forum Allergy Rhinol 2024;14(4):866-869.
  6. 6. Ewen R, Pink I, Sutharsan S, Aries SP, et al. PROGNOSIS Study Group. Primary Ciliary Dyskinesia in Adult Bronchiectasis: Data from the German Bronchiectasis Registry PROGNOSIS. Chest 2024;166(5):938-950.
  7. 7. Newman L, Chopra J, Dossett C, et al. The impact of primary ciliary dyskinesia on female and male fertility: a narrative review. Hum Reprod Update 2023;29(3):347-367.
  8. 8. Renaud M, Venkatasamy A, Escudier E, et al. Characterization of the ciliary beating efficiency in primary diffuse chronic rhinosinusitis. Rhinology 2024;62(6):763-765.

Details

Primary Language

English

Subjects

Otorhinolaryngology

Journal Section

Research Article

Authors

Pablo Melgarejo-Moreno This is me
Spain

Javier Galindo-Ortego This is me
Spain

Antonio Ruiz-Giner This is me
Spain

Publication Date

August 31, 2025

Submission Date

February 16, 2025

Acceptance Date

August 15, 2025

Published in Issue

Year 2025 Volume: 8 Number: 2

DOI

https://doi.org/10.65396/ejra.1825504

IZ

https://izlik.org/JA73ES34PZ

Cite

RIS / Bibtex
APA
Melgarejo-Moreno, P., Galindo-Ortego, J., & Ruiz-Giner, A. (2025). A Case of Primary Ciliary Aplasia Diagnosed by Nasal Biopsy. European Journal of Rhinology and Allergy, 8(2), 90-93. https://doi.org/10.65396/ejra.1825504
AMA
1.Melgarejo-Moreno P, Galindo-Ortego J, Ruiz-Giner A. A Case of Primary Ciliary Aplasia Diagnosed by Nasal Biopsy. Eur J Rhinol Allergy. 2025;8(2):90-93. doi:10.65396/ejra.1825504
Chicago
Melgarejo-Moreno, Pablo, Javier Galindo-Ortego, and Antonio Ruiz-Giner. 2025. “A Case of Primary Ciliary Aplasia Diagnosed by Nasal Biopsy”. European Journal of Rhinology and Allergy 8 (2): 90-93. https://doi.org/10.65396/ejra.1825504.
EndNote
Melgarejo-Moreno P, Galindo-Ortego J, Ruiz-Giner A (August 1, 2025) A Case of Primary Ciliary Aplasia Diagnosed by Nasal Biopsy. European Journal of Rhinology and Allergy 8 2 90–93.
IEEE
[1]P. Melgarejo-Moreno, J. Galindo-Ortego, and A. Ruiz-Giner, “A Case of Primary Ciliary Aplasia Diagnosed by Nasal Biopsy”, Eur J Rhinol Allergy, vol. 8, no. 2, pp. 90–93, Aug. 2025, doi: 10.65396/ejra.1825504.
ISNAD
Melgarejo-Moreno, Pablo - Galindo-Ortego, Javier - Ruiz-Giner, Antonio. “A Case of Primary Ciliary Aplasia Diagnosed by Nasal Biopsy”. European Journal of Rhinology and Allergy 8/2 (August 1, 2025): 90-93. https://doi.org/10.65396/ejra.1825504.
JAMA
1.Melgarejo-Moreno P, Galindo-Ortego J, Ruiz-Giner A. A Case of Primary Ciliary Aplasia Diagnosed by Nasal Biopsy. Eur J Rhinol Allergy. 2025;8:90–93.
MLA
Melgarejo-Moreno, Pablo, et al. “A Case of Primary Ciliary Aplasia Diagnosed by Nasal Biopsy”. European Journal of Rhinology and Allergy, vol. 8, no. 2, Aug. 2025, pp. 90-93, doi:10.65396/ejra.1825504.
Vancouver
1.Pablo Melgarejo-Moreno, Javier Galindo-Ortego, Antonio Ruiz-Giner. A Case of Primary Ciliary Aplasia Diagnosed by Nasal Biopsy. Eur J Rhinol Allergy. 2025 Aug. 1;8(2):90-3. doi:10.65396/ejra.1825504

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