Kartagener’s syndrome in a young female: A rare diagnosis in a resource‑limited facility
Year: 2025
Type: article
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.
Authors: Lawal, Yusuf, Suwaid, Muhammed Abba, Yahuza, Mansur Adamu, Kolade‑Yunusa, Hadijat Oluseyi
Language: English
Subfield: Pulmonary and Respiratory Medicine
Field: Medicine
Domain: Health Sciences
Open Access status: bronze
OpenAlex ID: W6959220064
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