Air Compartment Analysis of nNO and FeNO in RSPH4A-Associated Primary Ciliary Dyskinesia (PCD) vs Asthma

Authors

  • Natalia M. Ortiz Pérez Ponce Health Sciences University, Department of Pediatrics and Basic Sciences Author
  • Gabriel Rosario Ortiz Ponce Health Sciences University, Department of Pediatrics and Basic Sciences Author
  • Frances M. Quiñones Del Toro Ponce Health Sciences University, Department of Pediatrics and Basic Sciences Author
  • Dr. Wilfredo De Jesús Rojas Ponce Health Sciences University, Department of Pediatrics and Basic Sciences Author

DOI:

https://doi.org/10.71332/v4jgyk93

Abstract

PCD is a rare genetic disease that impairs mucociliary clearance and is known to have abnormally low nasal nitric oxide (nNO) levels. In Puerto Rico, a founder variant in RSPH4A [c.921+3_921+6delAAGT] raises the question of whether affected patients show similarly reduced nNO, in contrast to asthma, which usually has normal to elevated nNO and high FeNO from type 2 inflammation. Comparative assessment of NO provides a unique opportunity to differentiate pathophysiological signatures between genetic and inflammatory airway diseases. 

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Published

2025-12-22

Issue

Vol. 1 No. 2 (2025): Special Edition: Medical Student Summer Research Expo

Section

Articles

License

Copyright (c) 2025 Natalia M. Ortiz Pérez, Gabriel Rosario Ortiz, Frances M. Quiñones Del Toro, Dr. Wilfredo De Jesús Rojas (Author)

Creative Commons License

This work is licensed under a Creative Commons Attribution 4.0 International License.

Authors retain copyright of their articles. All works are published under the Creative Commons Attribution 4.0 International License (CC BY 4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are properly cited.