一名青少年男性的卡塔格纳综合征:病例报告和文献综述

Ravi Chirag, Arun Jayendra Rasuri, Thirunavukkarasu Arun Babu
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引用次数: 0

摘要

卡塔格纳综合征(KS)是一种罕见的常染色体隐性遗传病,会引起睫状肌运动紊乱,导致鼻窦炎、坐骨神经反位和支气管扩张三联症。DNAI1 和 DNAH5 等基因的突变会增加鼻窦肺部反复感染、不育和身体左右方向错误的易感性。一名十几岁的男孩有长达十年的鼻窦炎、慢性咳嗽和中耳炎病史,临床和影像学检查显示他患有支气管扩张和坐位倒置。由于出生时呼吸窘迫,他在新生儿重症监护室住了 1 个月,并发现有脱氧心动过速。抗生素、粘液溶解剂、胸腔治疗和疫苗接种等治疗改善了他的症状。对于患有右心室缺血和呼吸困难的新生儿,应考虑 KS。一旦确诊为 KS,则应提供遗传咨询并解决生育问题。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Kartagener’s syndrome in an adolescent male: A case report and review of literature
Kartagener’s syndrome (KS) is a rare autosomal recessive genetic condition causing disruption to ciliary movement, leading to the triad of sinusitis, situs inversus, and bronchiectasis. Mutations in genes such as DNAI1 and DNAH5 increase susceptibility to recurrent sinopulmonary infections, infertility and errors with the left-right body orientation. A teenage boy with a decade-long history of sinusitis, chronic cough and ear infections showed bronchiectasis and situs inversus in clinical and imaging examinations. He had a neonatal intensive care unit stay for 1 month due to respiratory distress at birth, where dextrocardia was noted. Treatment with antibiotics, mucolytics, chest therapy and vaccination improved his symptoms. KS should be considered in newborns with dextrocardia and breathing problems. Genetic counselling and fertility issues should be addressed once KS is diagnosed.
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