孟加拉男孩原发性纤毛运动障碍(Kartagener综合征):一例罕见病例

M. A. Bari, M. Hasan, Sultan Ahmed
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引用次数: 0

摘要

Kartagener综合征是一种常染色体隐性遗传疾病,是原发性纤毛运动障碍(PCD)的一个亚群。这种遗传性疾病从生命早期就表现出来,与后天性粘液纤毛疾病区别开来。卡塔赫纳综合征表现为典型的三联位倒置,鼻窦炎和支气管扩张,主要是由于纤毛运动受损。来自Fulbaria, Mymensingh的16岁男孩,左侧实变1个月,自幼反复发作鼻塞和下呼吸道感染。临床和影像学结果显示左侧实变,慢性鼻窦炎,支气管扩张,右心和倒位。他接受了口服抗生素、支气管扩张剂、黏液解药和胸部物理治疗。经上述治疗,患者症状好转,并开始长期低剂量预防性抗生素治疗。由于没有简单、可靠的无创诊断卡塔格纳综合征的方法,而且正确的诊断往往要延迟数年,因此它可能导致慢性呼吸问题,降低生活质量。一旦诊断出卡塔赫纳综合症,就应该进行遗传咨询和生育问题。《中国医学杂志》2022年1月第11期[01:56 . 60
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A Young Bangladeshi Boy with Primary Ciliary Dyskinesia (Kartagener’s Syndrome): A Rare Case
Kartagener’s syndrome, an autosomal recessive inherited disorder, is a subgroup of primary ciliary dyskinesias (PCD). This genetic disorder manifests from early life which distinguishes it from acquired mucociliary disorders. Kartagener’s syndrome presents as a classical triad of situs inversus, sinusitis and bronchiectasis occurring majorly due to impaired ciliary motility. A 16 year-old boy from Fulbaria, Mymensingh with left sided consolidation for 1 month and recurrent episodes of nasal congestion and lower respiratory tract infection (LRTI) since his childhood. Clinical and imaging findings revealed left sided consolidation, chronic sinusitis, bronchiectasis, dextrocardia, and situs inversus. He was treated with orally administered antibiotics, bronchodilators, mucolytics, and chest physiotherapy. He was symptomatically better with the above therapy, and started on a long-term low-dose prophylactic antibiotic. 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. CBMJ 2022 January: vol. 11 no. 01 P: 56-60
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