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一例以严重低氧血症为表现的卡塔格内综合征病例。

A Case of Kartagener's Syndrome Presenting With Severe Hypoxemia.

作者信息

Gul Nida, Tayong Felicita M, Sapkota Ashbin, Khan Muhammad Azeem, Mozumdar Priyanka, Niftalieva Gyullu, Ali Ayaz, Khan Zia Ullah, Din Nisar Ud, Miraj Samra

机构信息

Medicine, Lady Reading Hospital, Peshawar, PAK.

General Surgery, Tulane University School Of Medicine, New Orleans, USA.

出版信息

Cureus. 2025 Aug 13;17(8):e89960. doi: 10.7759/cureus.89960. eCollection 2025 Aug.

DOI:10.7759/cureus.89960
PMID:40951063
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12426798/
Abstract

Kartagener syndrome is a rare hereditary disorder that follows an autosomal recessive pattern of inheritance. It falls under the group of primary ciliary dyskinesias (PCDs). It is typically characterized by a classic triad: bronchiectasis, persistent sinus infections, and a reversal of internal organ positioning known as situs inversus. Due to its non-specific symptoms and absence of a simple diagnostic test, Kartagener syndrome is frequently diagnosed late, often after significant respiratory damage has occurred. We report the case of a 15-year-old female patient who presented with recurrent respiratory tract infections, productive cough, fever, and cyanosis. Radiological investigations confirmed the presence of situs inversus, bronchiectasis, and longstanding sinus inflammation, thereby meeting the criteria for a diagnosis of Kartagener syndrome. Arterial blood gas analysis indicated acute on chronic respiratory failure, and sputum culture showed growth of . The patient was managed with bronchodilators, oxygen therapy, antibiotics, and chest physiotherapy. Kartagener syndrome should be suspected in young individuals with chronic respiratory symptoms and situs inversus. Timely diagnosis and appropriate intervention can significantly reduce morbidity and improve patient outcomes.

摘要

卡塔格内综合征是一种罕见的遗传性疾病,遵循常染色体隐性遗传模式。它属于原发性纤毛运动障碍(PCD)组。其典型特征为经典三联征:支气管扩张、持续性鼻窦感染以及内脏位置反转,即内脏转位。由于其症状不具特异性且缺乏简单的诊断测试,卡塔格内综合征常常在出现严重呼吸损害后才被诊断出来,诊断时间较晚。我们报告一例15岁女性患者,她表现为反复呼吸道感染、咳痰、发热和发绀。影像学检查证实存在内脏转位、支气管扩张和长期鼻窦炎症,从而符合卡塔格内综合征的诊断标准。动脉血气分析表明为慢性呼吸衰竭急性发作,痰培养显示有……生长。该患者接受了支气管扩张剂、氧疗、抗生素和胸部物理治疗。对于有慢性呼吸道症状和内脏转位的年轻个体,应怀疑卡塔格内综合征。及时诊断和适当干预可显著降低发病率并改善患者预后。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6d0c/12426798/d3f2685c0457/cureus-0017-00000089960-i03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6d0c/12426798/13d9e72a2d65/cureus-0017-00000089960-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6d0c/12426798/528bb02590e4/cureus-0017-00000089960-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6d0c/12426798/d3f2685c0457/cureus-0017-00000089960-i03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6d0c/12426798/13d9e72a2d65/cureus-0017-00000089960-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6d0c/12426798/528bb02590e4/cureus-0017-00000089960-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6d0c/12426798/d3f2685c0457/cureus-0017-00000089960-i03.jpg

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本文引用的文献

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A Case of Unusual Presentation of Kartagener's Syndrome in a 22-Year-Old Female Patient.一名22岁女性患者的卡塔格内综合征罕见表现病例。
Cureus. 2022 Aug 17;14(8):e28119. doi: 10.7759/cureus.28119. eCollection 2022 Aug.
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Kartagener's syndrome: a case report.卡塔格内综合征:一例报告。
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