Kartagener syndrome initially presenting with pulmonary occupation: A case report

Rationale: Kartagener syndrome is a rare respiratory disorder caused by a genetic mutation that often combines abnormal manifestations of multiple systems. By discussing this case, we will be able to further deepen our understanding of Kartagener syndrome and improve the diagnosis rate of this rare disease and reduce its misdiagnosis rate. Patient concerns: A 62-year-old Chinese man had a history of bronchiectasis for 5 years and developed a small amount of hemoptysis 5 days before admission. Diagnoses: Peripheral blood genetic tests indicated primary ciliary dyskinesia (MIM:611884). Interventions: After admission, the patient was given anti-infection treatment, chest and abdominal computed tomography, electronic bronchoscopy, lung tissue puncture biopsy, peripheral blood gene detection. The patient underwent bladder tumor resection 3 months after discharge. Outcomes: After 6 months of follow-up, the patient recovered well and the lung lesions were obviously absorbed. The bladder tumor recovered well after resection. Lessons: Kartagener syndrome is very rare. It is characterized by bronchiectasis in the respiratory system and is often associated with other systemic disorders. Early diagnosis remains difficult and is very easy to miss. Genetic testing is an important diagnostic method at present.

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Publication Details

Journal
Medicine Case Reports and Study Protocols
Published
2025-04-01
DOI
https://doi.org/10.1097/md9.0000000000000361
Primary Topic
Cystic Fibrosis Research Advances
Type
article
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Kartagener syndrome initially presenting with pulmonary occupation: A case report

Zheng Duan, Xiaodan Jiao, Yuzheng He, Yanchao Liu
Medicine Case Reports and Study Protocols
Cystic Fibrosis Research Advances
article

Kartagener syndrome initially presenting with pulmonary occupation: A case report

Zheng Duan, Xiaodan Jiao, Yuzheng He, Yanchao Liu
article en

Abstract

Rationale: Kartagener syndrome is a rare respiratory disorder caused by a genetic mutation that often combines abnormal manifestations of multiple systems. By discussing this case, we will be able to further deepen our understanding of Kartagener syndrome and improve the diagnosis rate of this rare disease and reduce its misdiagnosis rate. Patient concerns: A 62-year-old Chinese man had a history of bronchiectasis for 5 years and developed a small amount of hemoptysis 5 days before admission. Diagnoses: Peripheral blood genetic tests indicated primary ciliary dyskinesia (MIM:611884). Interventions: After admission, the patient was given anti-infection treatment, chest and abdominal computed tomography, electronic bronchoscopy, lung tissue puncture biopsy, peripheral blood gene detection. The patient underwent bladder tumor resection 3 months after discharge. Outcomes: After 6 months of follow-up, the patient recovered well and the lung lesions were obviously absorbed. The bladder tumor recovered well after resection. Lessons: Kartagener syndrome is very rare. It is characterized by bronchiectasis in the respiratory system and is often associated with other systemic disorders. Early diagnosis remains difficult and is very easy to miss. Genetic testing is an important diagnostic method at present.

Medicine Case Reports and Study ProtocolsVol. 6(2)
Hebei Medical University (CN), Second Hospital of Hebei Medical University (CN)
Good health and well-being
Openalex Percentile: Top 88%
Cystic Fibrosis Research Advances
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Kartagener syndrome initially presenting with pulmonary occupation: A case report — Zheng Duan, Xiaodan Jiao, et al. · Medicine Case Reports and Study Protocols (2025) | TGRS Research Map | TGRS