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Kartagener′Syndrome. A Clinical Case

机译:Kartagener综合征。临床案例

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Kartagener's syndrome, also called primary ciliary dyskinesia, is an autosomal recessive genetic entity whose alteration resides in genes 4 and 12. Kartagener’s syndrome is clinically characterized by the triad of chronic sinusitis, bronchiectasis and situs inversus partial or total. Prevalence is reported by 1 case per each 68000 individuals. Diagnosis is done more frequently in the childhood with a clinical picture characterized by recidivated respiratory infections. Although sometimes there may be other non-respiratory symptoms such as deafness or hearing loss and impairment of fertility. The observation of the ciliary structure under electronic microscopy confirmed the diagnosis. A clical case is presented.
机译:Kartagener综合征,也称为原发性睫状运动障碍,是一种常染色体隐性遗传实体,其改变存在于基因4和12中。Kartagener综合征的临床特征是慢性鼻窦炎,支气管扩张和部位反位三部分或全部。每68000人报告1例患病率。在儿童期,以具有反复呼吸道感染为特征的临床表现,诊断更加频繁。尽管有时可能会出现其他非呼吸道症状,例如耳聋或听力下降以及生育能力下降。在电子显微镜下观察睫状结构证实了诊断。提出了一个案件。

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