Kartagener’s syndrome in a young female: A rare diagnosis in a resource‑limited facility

Kartagener’s syndrome (KS) is a subset of a larger group of ciliary motility disorders called primary ciliary dyskinesia. It is a genetic disease with an autosomal recessive inheritance characterized by inefficient or absent mucociliary clearance. It is a very rare congenital malformation comprising a classical triad of situs inversus, bronchiectasis, and sinusitis. A 22-year-old single female Nigerian came to our health facility with complaints of recurrent productive, non-foul-smelling cough, nasal discharge, and occasional shortness of breath since early childhood. She had a positive history of recurrent hospital visitations and chronic use of antibiotics but with few hospitalizations for recurrent chest infection. Chest examination revealed a maximally audible apex beat on the right side of her chest. Chest radiograph showed dextrocardia, while a chest computer tomography scan revealed cystic and varicose bronchiectatic changes with peribronchial thickening and multiple tiny interstitial nodules, mainly in the bilateral middle and lower lung fields. The patient had a fair response on inhaled steroids, nasal steroid spray, antibiotics, mucolytics, and bronchodilators. She is on follow-up clinic visits and close monitoring for potential complications. Patients with KS exist in resource-poor settings like northern Nigeria, largely being managed as cases of chronic sinusitis, pneumonia, or asthma. Although there is no rapid, reliable, non-invasive diagnostic test for KS, accurate diagnosis is crucial if the risks of complications from advanced disease and reduced quality of life are to be averted.

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Publication Details

Published
2025-06-05
DOI
https://doi.org/10.82235/wajr.vol28no1.67
Primary Topic
Cystic Fibrosis Research Advances
Type
article
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article

Kartagener’s syndrome in a young female: A rare diagnosis in a resource‑limited facility

Cystic Fibrosis Research Advances
article

Kartagener’s syndrome in a young female: A rare diagnosis in a resource‑limited facility

article en

Abstract

Kartagener’s syndrome (KS) is a subset of a larger group of ciliary motility disorders called primary ciliary dyskinesia. It is a genetic disease with an autosomal recessive inheritance characterized by inefficient or absent mucociliary clearance. It is a very rare congenital malformation comprising a classical triad of situs inversus, bronchiectasis, and sinusitis. A 22-year-old single female Nigerian came to our health facility with complaints of recurrent productive, non-foul-smelling cough, nasal discharge, and occasional shortness of breath since early childhood. She had a positive history of recurrent hospital visitations and chronic use of antibiotics but with few hospitalizations for recurrent chest infection. Chest examination revealed a maximally audible apex beat on the right side of her chest. Chest radiograph showed dextrocardia, while a chest computer tomography scan revealed cystic and varicose bronchiectatic changes with peribronchial thickening and multiple tiny interstitial nodules, mainly in the bilateral middle and lower lung fields. The patient had a fair response on inhaled steroids, nasal steroid spray, antibiotics, mucolytics, and bronchodilators. She is on follow-up clinic visits and close monitoring for potential complications. Patients with KS exist in resource-poor settings like northern Nigeria, largely being managed as cases of chronic sinusitis, pneumonia, or asthma. Although there is no rapid, reliable, non-invasive diagnostic test for KS, accurate diagnosis is crucial if the risks of complications from advanced disease and reduced quality of life are to be averted.

University of Abuja Teaching Hospital (NG), Bayero University Kano (NG)
No poverty
Openalex Percentile: Top 36%
Cystic Fibrosis Research Advances
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