Tadesse Abilo, Alemu Hailemariam, Silamsaw Mezgebu, Gebrewold Yonathan
Department of Internal Medicine, College of Medicine and Health Sciences, University of Gondar, Gondar, Ethiopia.
Department of Radiology, College of Medicine and Health Sciences, University of Gondar, Gondar, Ethiopia.
J Med Case Rep. 2018 Jan 10;12(1):5. doi: 10.1186/s13256-017-1538-2.
Kartagener's syndrome is a subset of primary ciliary dyskinesia, an autosomal recessive inherited disorder characterized by the clinical triad of chronic sinusitis, bronchiectasis, and situs inversus. Abnormal ciliary structure or function leading to impaired ciliary motility is the main pathophysiologic problem in Kartagener's syndrome.
A 24-year-old man from Gondar town, North-West Ethiopia, presented to University of Gondar Hospital with recurrent episodes of nasal congestion with itching and paranasal discomfort, and productive cough for more than a decade. Clinical and imaging findings revealed chronic sinusitis, bronchiectasis, dextrocardia, and situs inversus. He was treated with orally administered antibiotics, mucolytic, and chest physiotherapy. He was symptomatically better with the above therapy, and started on a long-term low-dose prophylactic antibiotic.
Patients with Kartagener's syndrome exist in Ethiopia as cases of chronic recurrent sinopulmonary infections. As there is no easy, reliable non-invasive diagnostic test for Kartagener's syndrome and the correct diagnosis is often delayed by years, it may cause chronic respiratory problems with reduced quality of life. Genetic counseling and fertility issues should be addressed once Kartagener's syndrome is diagnosed.
卡塔格内综合征是原发性纤毛运动障碍的一个亚型,是一种常染色体隐性遗传性疾病,其临床特征为慢性鼻窦炎、支气管扩张和内脏转位三联征。导致纤毛运动受损的纤毛结构或功能异常是卡塔格内综合征的主要病理生理问题。
一名来自埃塞俄比亚西北部贡德尔镇的24岁男性,因反复出现鼻塞伴瘙痒和鼻旁不适,以及咳痰性咳嗽十多年,就诊于贡德尔大学医院。临床和影像学检查发现慢性鼻窦炎、支气管扩张、右位心和内脏转位。给予口服抗生素、黏液溶解剂治疗及胸部物理治疗。经上述治疗后症状有所改善,并开始长期低剂量预防性使用抗生素。
在埃塞俄比亚,卡塔格内综合征患者以慢性复发性鼻窦肺部感染的形式存在。由于目前尚无简单、可靠的非侵入性诊断卡塔格内综合征的检查方法,且正确诊断往往延迟数年,这可能导致慢性呼吸问题,降低生活质量。一旦诊断为卡塔格内综合征,应进行遗传咨询并解决生育问题。