Pathogenic compound mutations in the RSPH1 gene as a cause of primary ciliary dyskinesia: first documented case in Colombia

Authors

  • María Ángela Rengifo-de Lima Department of Microbiology, Faculty of Health, Universidad del Valle, Cali, Colombia https://orcid.org/0000-0002-4624-417X
  • Vanessa Cabrera Guarín Department of Basic and Clinical Sciences, Faculty of Health, Pontifical Javeriana University Cali, Colombia https://orcid.org/0000-0003-2693-0444
  • Andrés Felipe Zea-Vera Department of Microbiology, Faculty of Health, Universidad del Valle, Cali, Colombia

DOI:

https://doi.org/10.32818/reccmi.a10n3a8

Keywords:

primary ciliary dyskinesia, cilia, genetic mutation, bronchiectasis, respiratory tract infections

Abstract

Primary ciliary dyskinesia (PCD) is a genetic disorder affecting the function and structure of motile cilia in the respiratory tract, with a prevalence of 1/20,000. It is associated with chronic wet cough, nasal congestion and rhinitis. We report a Colombian woman with recurrent respiratory infections diagnosed through transbronchial biopsy and whole exome sequencing (WES), identifying a compound heterozygous mutation in the RSPH1 gene, previously unreported in Colombia.

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Author Biography

Vanessa Cabrera Guarín, Department of Basic and Clinical Sciences, Faculty of Health, Pontifical Javeriana University Cali, Colombia

General Practitioner graduated from the Pontificia Universidad Javeriana de Cali, with a strong interest in research and a solid background in comprehensive medical care. Currently part of the Clinical Research Center at Fundación Valle del Lili, actively involved in research projects across various medical specialties.

I have experience in patient care in emergency services, inpatient wards, and outpatient clinics, covering low, medium, and high complexity levels. I possess clinical knowledge in multiple areas of general medicine, including initial trauma care.

I have been involved in clinical research in Dermatology, Plastic Surgery, General Surgery, Internal Medicine, and Immunology. My professional approach is centered on comprehensive, person-focused care, and I am characterized by leadership, discipline, teamwork, results orientation, strong interpersonal skills, empathy, and a positive impact on those around me.

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Published

2025-12-23

How to Cite

1.
Rengifo-de Lima M Ángela, Cabrera Guarín V, Zea-Vera AF. Pathogenic compound mutations in the RSPH1 gene as a cause of primary ciliary dyskinesia: first documented case in Colombia. Rev Esp Casos Clin Med Intern [Internet]. 2025 Dec. 23 [cited 2026 Feb. 16];10(3):121-4. Available from: https://www.reccmi.com/RECCMI/article/view/1199

Issue

Vol. 10 No. 3 (2025): Revista Española de Casos Clínicos en Medicina Interna

Section

CLINICAL CASES

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Copyright (c) 2025 María Ángela Rengifo-de Lima, Vanessa Cabrera Guarín, Andrés Felipe Zea-Vera

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