Academic Journal
Beyond the Mirror: A Case of Kartagener's Syndrome With Situs Inversus and Chronic Respiratory Complications in an Adult Patient
| Τίτλος: | Beyond the Mirror: A Case of Kartagener's Syndrome With Situs Inversus and Chronic Respiratory Complications in an Adult Patient |
|---|---|
| Συγγραφείς: | Sinawe, H., Reimer, B., Salloum, A. |
| Πηγή: | American Journal of Respiratory and Critical Care Medicine ; volume 211, issue Supplement_1, page A4109-A4109 ; ISSN 1073-449X 1535-4970 |
| Στοιχεία εκδότη: | Oxford University Press (OUP) |
| Έτος έκδοσης: | 2025 |
| Περιγραφή: | Introduction Primary ciliary dyskinesia (PCD) is a rare genetic disorder causing defective ciliary function and impaired mucociliary clearance. Features include chronic bronchiectasis, recurrent infections, and, in 50% of cases, situs inversus which indicates Kartagener's syndrome (KS). Due to the rarity of PCD and its subtle onset, diagnosis is frequently delayed. This case highlights the importance of early recognition of clinical features linked to PCD and demonstrates targeted management strategies. Case Presentation This is a 77-year-old male with a history of complete situs inversus with dextrocardia, recurrent sinopulmonary infections (8-10 episodes in his lifetime), hypertension, reported asthma, rhinitis, and a remote smoking history. He presented with exertional dyspnea. PFT revealed a mild obstructive ventilatory defect with evidence of air trapping. Despite proper inhaler technique, he reported worsening exertional dyspnea with productive cough, greenish sputum production and nasal congestion. CT chest revealed dextrocardia with significant bronchial wall thickening and bilateral bronchiectasis. Situs inversus with a right-sided aortic arch was also noted. Due to these findings, KS was suspected. Workup for bronchiectasis was performed. The patient ultimately tested homozygous for a DNAAF11 gene mutation, confirming a diagnosis of PCD. His fluticasone propionate and salmeterol inhalation powder was discontinued to avoid potential adverse effects associated with PCD. Treatment included supportive care and mucus clearance techniques including chest physiotherapy and flutter valve; mucolytics were prescribed. Tiotropium bromide was prescribed due to emphysema noted on imaging, presence of wheezing, and increased albuterol use. Discussion This case illustrates the diagnostic (genetic testing and imaging) and management considerations for PCD complicated by KS. Situs inversus and bronchiectasis suggested KS, later confirmed through genetic testing (previously via biopsy) for DNAAF11. This ... |
| Τύπος εγγράφου: | article in journal/newspaper |
| Γλώσσα: | English |
| DOI: | 10.1164/ajrccm.2025.211.abstracts.a4109 |
| Διαθεσιμότητα: | https://doi.org/10.1164/ajrccm.2025.211.abstracts.a4109 https://academic.oup.com/ajrccm/article-pdf/211/Supplement_1/A4109/67040900/ajrccm_211_abstracts_a4109.pdf |
| Rights: | https://academic.oup.com/pages/standard-publication-reuse-rights |
| Αριθμός Καταχώρησης: | edsbas.8120504F |
| Βάση Δεδομένων: | BASE |
| FullText | Text: Availability: 0 CustomLinks: – Url: https://doi.org/10.1164/ajrccm.2025.211.abstracts.a4109# Name: EDS - BASE (ns324271) Category: fullText Text: View record from BASE |
|---|---|
| Header | DbId: edsbas DbLabel: BASE An: edsbas.8120504F RelevancyScore: 900 AccessLevel: 3 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 899.935607910156 |
| IllustrationInfo | |
| Items | – Name: Title Label: Title Group: Ti Data: Beyond the Mirror: A Case of Kartagener's Syndrome With Situs Inversus and Chronic Respiratory Complications in an Adult Patient – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AR" term="%22Sinawe%2C+H%2E%22">Sinawe, H.</searchLink><br /><searchLink fieldCode="AR" term="%22Reimer%2C+B%2E%22">Reimer, B.</searchLink><br /><searchLink fieldCode="AR" term="%22Salloum%2C+A%2E%22">Salloum, A.</searchLink> – Name: TitleSource Label: Source Group: Src Data: American Journal of Respiratory and Critical Care Medicine ; volume 211, issue Supplement_1, page A4109-A4109 ; ISSN 1073-449X 1535-4970 – Name: Publisher Label: Publisher Information Group: PubInfo Data: Oxford University Press (OUP) – Name: DatePubCY Label: Publication Year Group: Date Data: 2025 – Name: Abstract Label: Description Group: Ab Data: Introduction Primary ciliary dyskinesia (PCD) is a rare genetic disorder causing defective ciliary function and impaired mucociliary clearance. Features include chronic bronchiectasis, recurrent infections, and, in 50% of cases, situs inversus which indicates Kartagener's syndrome (KS). Due to the rarity of PCD and its subtle onset, diagnosis is frequently delayed. This case highlights the importance of early recognition of clinical features linked to PCD and demonstrates targeted management strategies. Case Presentation This is a 77-year-old male with a history of complete situs inversus with dextrocardia, recurrent sinopulmonary infections (8-10 episodes in his lifetime), hypertension, reported asthma, rhinitis, and a remote smoking history. He presented with exertional dyspnea. PFT revealed a mild obstructive ventilatory defect with evidence of air trapping. Despite proper inhaler technique, he reported worsening exertional dyspnea with productive cough, greenish sputum production and nasal congestion. CT chest revealed dextrocardia with significant bronchial wall thickening and bilateral bronchiectasis. Situs inversus with a right-sided aortic arch was also noted. Due to these findings, KS was suspected. Workup for bronchiectasis was performed. The patient ultimately tested homozygous for a DNAAF11 gene mutation, confirming a diagnosis of PCD. His fluticasone propionate and salmeterol inhalation powder was discontinued to avoid potential adverse effects associated with PCD. Treatment included supportive care and mucus clearance techniques including chest physiotherapy and flutter valve; mucolytics were prescribed. Tiotropium bromide was prescribed due to emphysema noted on imaging, presence of wheezing, and increased albuterol use. Discussion This case illustrates the diagnostic (genetic testing and imaging) and management considerations for PCD complicated by KS. Situs inversus and bronchiectasis suggested KS, later confirmed through genetic testing (previously via biopsy) for DNAAF11. This ... – Name: TypeDocument Label: Document Type Group: TypDoc Data: article in journal/newspaper – Name: Language Label: Language Group: Lang Data: English – Name: DOI Label: DOI Group: ID Data: 10.1164/ajrccm.2025.211.abstracts.a4109 – Name: URL Label: Availability Group: URL Data: https://doi.org/10.1164/ajrccm.2025.211.abstracts.a4109<br />https://academic.oup.com/ajrccm/article-pdf/211/Supplement_1/A4109/67040900/ajrccm_211_abstracts_a4109.pdf – Name: Copyright Label: Rights Group: Cpyrght Data: https://academic.oup.com/pages/standard-publication-reuse-rights – Name: AN Label: Accession Number Group: ID Data: edsbas.8120504F |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=edsbas&AN=edsbas.8120504F |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1164/ajrccm.2025.211.abstracts.a4109 Languages: – Text: English Titles: – TitleFull: Beyond the Mirror: A Case of Kartagener's Syndrome With Situs Inversus and Chronic Respiratory Complications in an Adult Patient Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Sinawe, H. – PersonEntity: Name: NameFull: Reimer, B. – PersonEntity: Name: NameFull: Salloum, A. IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 01 Type: published Y: 2025 Identifiers: – Type: issn-locals Value: edsbas Titles: – TitleFull: American Journal of Respiratory and Critical Care Medicine ; volume 211, issue Supplement_1, page A4109-A4109 ; ISSN 1073-449X 1535-4970 Type: main |
| ResultId | 1 |