PDF(Pubmed)
Abstract：
Primary Ciliary Dyskinesia (PCD) is a rare autosomal recessive disorder caused by impaired ciliary function. The incidence of PCD is 1 in 20,000 births. Kartagener\'s syndrome (KS), a subtype of PCD, is distinguished by the presence of situs inversus. KS occurs in about 1 in 32,000 to 40,000 births. Characterized by a triad of situs inversus totalis, sinusitis, and typically lower lobe bronchiectasis, Kartagener\'s syndrome presents with distinct radiological features, which are explored in this case study. We report on an adolescent male with Kartagener\'s syndrome, manifesting atypical bronchiectasis in the left upper lobe, leading to a bilateral lung transplant, and severe pectus excavatum requiring surgical correction. This case documents a male patient with concurrent Kartagener\'s syndrome and pectus excavatum, supporting a previously explored, albeit theoretical association between these conditions.
摘要：
原发性纤毛运动障碍（PCD）是一种罕见的常染色体隐性遗传疾病，由纤毛功能受损引起。PCD的发病率是每20,000个婴儿中就有1个。Kartagener综合征（KS），PCD的亚型，以反位的存在为特征。KS发生在约32,000至40,000的新生儿中。以完全位倒置的三合会为特征，鼻窦炎,通常是下叶支气管扩张，Kartagener综合征表现出明显的放射学特征，在这个案例研究中进行了探索。我们报道了一名患有Kartagener综合征的青春期男性，在左上叶表现出非典型支气管扩张，导致双侧肺移植，严重的漏斗胸需要手术矫正。该病例记录了一名男性患者并发Kartagener综合征和漏斗胸，支持以前探索过的，尽管这些条件之间存在理论联系。
