罕见的晚期出现的Kartagener综合征1例报告

A. H. Al-Mazroea
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摘要

Kartagener综合征(KS)是一种罕见的遗传常染色体隐性遗传病。它包括慢性鼻窦炎、支气管扩张和鼻窦炎三联征。这些症状在生命早期的儿童中更为普遍。我们描述了一个15岁的孩子表现出严重的呼吸窘迫与间歇性湿咳嗽和鼻炎的历史在过去的6个月。患者出生时被诊断为右心,此后无明显的不良病史。根据他的临床表现和影像学表现,他被诊断为KS,并通过全外显子组测序证实。患者接受常规药物治疗和无创通气。他出院后接受了长期的间歇性预防性抗生素治疗。有反复呼吸道感染的右心患儿应怀疑为KS。早期发现KS对于避免并发症和改善患者的生活质量至关重要。
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Unusual Late Presentation of Kartagener Syndrome: A Case Report
Kartagener ' s syndrome (KS) is a rare inherited autosomal recessive condition. It comprises the triad chronic sinusitis, bronchiectasis, and situs inversus. The symptoms are more prevalent in children in the early years of life. We describe a case of a 15-year-old child showing severe respiratory distress with a history of intermittent wet cough and rhinitis for the past 6 months. The patient was diagnosed with dextrocardia at birth and had no signi fi cant medical history since then. Based on his clinical presentation and imaging fi ndings, he was diagnosed with KS which was con fi rmed by whole-exome sequencing. The patient was managed with conventional medical therapy and noninvasive ventilation. He was discharged on a long-term intermittent prophylactic antibiotic regimen. KS should be suspected in any child with dextrocardia who has recurrent respiratory tract infections. Early detection of KS is critical for avoiding complications and improving patients ' quality of life.
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