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CASE REPORT article
Front. Med.
Sec. Pulmonary Medicine
Volume 12 - 2025 | doi: 10.3389/fmed.2025.1513370
This article is part of the Research Topic Distinct phenotype but same genotype: Hints for the diversity of phenotypes in ciliopathies View all articles
Analysis of Clinical and Genetic Features in a Pediatric Patient with Kartagener Syndrome Caused by Compound Heterozygous Mutations in the DNAH5 Gene: A Case Study and Literature Review
Provisionally accepted- Hebei Provincial Children's Hospital, Shijiazhuang, China
Kartagener syndrome(KS) is a rare genetic disorder characterized by impaired ciliary function, and it is a subtype of Primary Ciliary Dyskinesia (PCD) Kartagener syndrome (KSKS), a subtype of Primary Ciliary Dyskinesia (PCD), is a rare genetic disorder characterized by situs inversus, chronic sinusitis, bronchiectasis, recurrent respiratory infections, and impaired ciliary function, diagnosed through physical examination, imaging like Computed Tomography(CT), nasal nitric oxide measurement, genetic testing, and pulmonary function tests.. We present a case study of a 15 years and 11 months-year-old male patient with KSKS artagener syndrome complicated by sinusitis, secretory otitis media,and bronchiectasis. The patient exhibited situs inversus totalis, affecting the lungs, heart, and abdominal organs.Treatment included antibiotics for infection, mucolytics, and pulmonary rehabilitation. Postural drainage and bronchoscopy were performed for lung lavage. Following treatment, the patient's respiratory symptoms improved, and lung function tests showed improvement. A literature review identified a high prevalence of lung and heart transpositions in Chinese patients with PCDPCD, while abdominal organ transposition was less commonly reported. Genetic analysis revealed compound heterozygous mutations in the DNAH5 gene, specifically c.12279+1 G>A (Exon 71, NM_001369) and c.9457 C>T (Exon 56, NM_001369), in the DNAH5 gene, including the newly discovered variant c.9457 C>T (exon 56, NM_001369). This novel mutation expands the genetic landscape associated with KS artagener syndrome, providing further insights into the underlying genetic basis of the condition. The study emphasizes the clinical features, limited reporting of abdominal organ transposition, genetic basis, and treatment of KSKS artagener syndrome, contributing to the understanding and management of this condition.
Keywords: primary ciliary dyskinesia, Kartagener Syndrome, ciliary function, Situs Inversus, Genetic mutations, DNAH5 Change many to various Commented [kk2]: Modified this paragraph Commented [12]: Commented [13R12]: Commented [14]: Commented [15]: Add the content
Received: 18 Oct 2024; Accepted: 03 Mar 2025.
Copyright: © 2025 Zhang, Gao, Xing, Wu, Liu and Zhang. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence:
Yingqian Zhang, Hebei Provincial Children's Hospital, Shijiazhuang, China
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