{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T16:00:51Z","timestamp":1753891251896,"version":"3.41.2"},"reference-count":15,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2025,3,28]],"date-time":"2025-03-28T00:00:00Z","timestamp":1743120000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Med."],"abstract":"<jats:p>Kartagener syndrome (KS), a subtype of primary ciliary dyskinesia (PCD), is a rare genetic disorder characterized by <jats:italic>situs inversus<\/jats:italic>, chronic sinusitis, bronchiectasis, recurrent respiratory infections, and impaired ciliary function. It is diagnosed through physical examination, imaging techniques such as computed tomography (CT), nasal nitric oxide measurement, genetic testing, and pulmonary function tests. We present a case study of a 15-year-and-11-month-old male patient with KS complicated by sinusitis, secretory otitis media, and bronchiectasis. The patient exhibited <jats:italic>situs inversus totalis<\/jats:italic>, 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\u2019s 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 PCD, while abdominal organ transposition was less commonly reported. Genetic analysis revealed compound heterozygous mutations in the <jats:italic>DNAH5<\/jats:italic> gene, specifically c.12279\u202f+\u202f1\u202fG\u202f&amp;gt;\u202fA (exon 71, NM_001369) and c.9457 C\u202f&amp;gt;\u202fT (exon 56, NM_001369), including the newly discovered variant c.9457 C\u202f&amp;gt;\u202fT (exon 56, NM_001369). This novel mutation expands the genetic landscape associated with KS, providing further insights into the underlying genetic basis of the condition. The study emphasizes the clinical features, the limited reporting of abdominal organ transposition, the genetic basis, and the treatment of KS, thereby contributing to the understanding and management of this condition.<\/jats:p>","DOI":"10.3389\/fmed.2025.1513370","type":"journal-article","created":{"date-parts":[[2025,3,28]],"date-time":"2025-03-28T05:11:20Z","timestamp":1743138680000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["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"],"prefix":"10.3389","volume":"12","author":[{"given":"Jingli","family":"Zhang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Longfei","family":"Gao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yu","family":"Xing","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"HuiFang","family":"Wu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaojuan","family":"Liu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yingqian","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2025,3,28]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","first-page":"e24","DOI":"10.1164\/rccm.201805-0819ST","article-title":"Diagnosis of primary ciliary dyskinesia. An official American Thoracic Society clinical practice guideline","volume":"197","author":"Shapiro","year":"2018","journal-title":"Am J Respir Crit Care Med"},{"key":"ref2","doi-asserted-by":"publisher","first-page":"77","DOI":"10.1038\/s41572-020-0209-6","article-title":"Motile ciliopathies","volume":"6","author":"Wallmeier","year":"2020","journal-title":"Nat Rev Dis Primers"},{"key":"ref3","doi-asserted-by":"publisher","first-page":"51","DOI":"10.3233\/TRD-190036","article-title":"Primary ciliary dyskinesia (PCD): a genetic disorder of motile cilia","volume":"4","author":"Leigh","year":"2019","journal-title":"Transl Sci Rare Dis"},{"key":"ref4","doi-asserted-by":"publisher","first-page":"1081","DOI":"10.1183\/13993003.00736-2016","article-title":"Clinical manifestations in primary ciliary dyskinesia: systematic review and meta-analysis","volume":"48","author":"Goutaki","year":"2016","journal-title":"Eur Respir J"},{"key":"ref5","doi-asserted-by":"publisher","first-page":"203","DOI":"10.1136\/thoraxjnl-2018-212104","article-title":"Risk factors for situs defects and congenital heart disease in primary ciliary dyskinesia","volume":"74","author":"Best","year":"2019","journal-title":"Thorax"},{"key":"ref6","doi-asserted-by":"publisher","first-page":"11","DOI":"10.1016\/j.semcdb.2020.06.003","article-title":"Right, left and cilia: how asymmetry is established","volume":"110","author":"Little","year":"2021","journal-title":"Semin Cell Dev Biol"},{"key":"ref7","doi-asserted-by":"publisher","first-page":"71","DOI":"10.3760\/cma.j.cn511374-20220110-00020","article-title":"Genetic analysis of a child with Kartagener syndrome due to novel compound heterozygous variants of DNAH5 gene","volume":"40","author":"Zhang","year":"2023","journal-title":"Zhonghua Yi Xue Yi Chuan Xue Za Zhi"},{"key":"ref8","doi-asserted-by":"publisher","first-page":"314","DOI":"10.1186\/s12883-020-01895-x","article-title":"Co-occurrence of Moyamoya syndrome and Kartagener syndrome caused by the mutation of DNAH5 and DNAH11: a case report","volume":"20","author":"Zhang","year":"2020","journal-title":"BMC Neurol"},{"key":"ref9","doi-asserted-by":"publisher","first-page":"459","DOI":"10.1016\/S2213-2600(21)00453-7","article-title":"The global prevalence and ethnic heterogeneity of primary ciliary dyskinesia gene variants: a genetic database analysis","volume":"10","author":"Hannah","year":"2022","journal-title":"Lancet Respir Med"},{"key":"ref10","doi-asserted-by":"publisher","first-page":"1768","DOI":"10.1016\/j.chest.2021.02.006","article-title":"Clinical and genetic Spectrum of children with primary ciliary dyskinesia in China","volume":"159","author":"Guan","year":"2021","journal-title":"Chest"},{"key":"ref11","doi-asserted-by":"publisher","first-page":"293","DOI":"10.1186\/s13023-021-01840-2","article-title":"Clinical characteristics and genetic spectrum of 26 individuals of Chinese origin with primary ciliary dyskinesia","volume":"16","author":"Zhao","year":"2021","journal-title":"Orphanet J Rare Dis"},{"key":"ref12","doi-asserted-by":"publisher","first-page":"120","DOI":"10.1164\/rccm.200601-084OC","article-title":"DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects","volume":"174","author":"Hornef","year":"2006","journal-title":"Am J Respir Crit Care Med"},{"key":"ref13","doi-asserted-by":"publisher","first-page":"e002686","DOI":"10.1161\/CIRCGEN.119.002686","article-title":"Randomization of left-right asymmetry and congenital heart defects: the role of DNAH5 in humans and mice","volume":"12","author":"N\u00f6the-Menchen","year":"2019","journal-title":"Circ Genom Precis Med"},{"key":"ref14","doi-asserted-by":"publisher","first-page":"9834","DOI":"10.3390\/ijms22189834","article-title":"Current and future treatments in primary ciliary dyskinesia","volume":"22","author":"Paff","year":"2021","journal-title":"Int J Mol Sci"},{"key":"ref15","doi-asserted-by":"publisher","first-page":"10819","DOI":"10.3389\/ti.2023.10819","article-title":"Lung transplantation for primary ciliary dyskinesia and Kartagener syndrome: a multicenter study","volume":"36","author":"Marro","year":"2023","journal-title":"Transpl Int"}],"container-title":["Frontiers in Medicine"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fmed.2025.1513370\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,3,28]],"date-time":"2025-03-28T05:11:24Z","timestamp":1743138684000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fmed.2025.1513370\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,3,28]]},"references-count":15,"alternative-id":["10.3389\/fmed.2025.1513370"],"URL":"https:\/\/doi.org\/10.3389\/fmed.2025.1513370","relation":{},"ISSN":["2296-858X"],"issn-type":[{"type":"electronic","value":"2296-858X"}],"subject":[],"published":{"date-parts":[[2025,3,28]]},"article-number":"1513370"}}