Poudel Sabin, Basnet Anuj, Bista Satkirti, Shah Ravi, Chhetri Binita Thapa
Nepalese Army Institute of Health Sciences, Kathmandu, Nepal.
Ann Med Surg (Lond). 2023 May 10;85(6):3102-3105. doi: 10.1097/MS9.0000000000000796. eCollection 2023 Jun.
Kartagener's syndrome is a rare, ciliopathic autosomal recessive genetic disorder that comprises a triad of situs inversus, chronic sinusitis, and bronchiectasis leading to recurrent respiratory infections due to ciliary dyskinesia and thereby progressive deterioration of lung function. Additional clinical features of infertility, otitis media, and rhinitis are also seen in patients.
The authors hereby present a case of Kartagener's syndrome in a 40-year-old male with a repeated respiratory infection and bronchial asthma. He was received at the emergency room with symptoms of hemoptysis, shortness of breath, and chest pain. Diagnosis of cystic bronchiectasis with superadded infection was made based on clinical examinations and radiological assessments. He was treated in high-dependency unit. After 5 days of relieving therapeutic interventions in the hospital, he was discharged without further complication.
Early diagnosis of Kartagener's syndrome is likely to be beneficial as it helps delay deterioration of lung function to prevent complications and improve the quality of life of patients but the diagnosis of this syndrome is usually delayed as it is a rare disease, especially in countries with lack of complex diagnostic facilities. So, assessment for this syndrome has to be done in patients presenting with chronic and recurrent respiratory infections for correct timely diagnosis to have a good patient-centric healthcare facility.
卡塔格内综合征是一种罕见的、由纤毛病引起的常染色体隐性遗传病,包括内脏转位、慢性鼻窦炎和支气管扩张三联征,由于纤毛运动障碍导致反复呼吸道感染,进而使肺功能逐渐恶化。患者还会出现不孕、中耳炎和鼻炎等其他临床特征。
作者在此报告一例40岁男性卡塔格内综合征患者,该患者反复出现呼吸道感染并患有支气管哮喘。他因咯血、呼吸急促和胸痛症状被送往急诊室。根据临床检查和影像学评估,诊断为囊性支气管扩张合并感染。他在高依赖病房接受治疗。经过5天的缓解性治疗干预后,他出院时未出现进一步并发症。
卡塔格内综合征的早期诊断可能有益,因为它有助于延缓肺功能恶化,预防并发症并提高患者生活质量,但由于该综合征罕见,尤其是在缺乏复杂诊断设施的国家,其诊断通常会延迟。因此,对于出现慢性和反复呼吸道感染的患者,必须进行该综合征的评估,以便及时正确诊断,从而提供以患者为中心的优质医疗服务。