Shinozaki Ririko, Sugimoto Yukihiro, Nakano Hirohumi, Aoki Ryota, Yamamoto Takayuki, Takata Kengo, Hasama Daiki, Tukasa Yu
Fukuoka Seisyukai Hospital, Chojabarunishi, Kasuya Gun Kasuya Machi, Fukuoka Ken, 811-2316, Japan.
Respir Med Case Rep. 2025 Jul 5;57:102259. doi: 10.1016/j.rmcr.2025.102259. eCollection 2025.
Ciliary motility disorders can be inherited or acquired. , located on chromosome 5p15.2 and encoding a protein of 4624 amino acids, is one of the most frequently implicated genes in congenital conditions known as primary ciliary dyskinesia (PCD). Genetic variants of exhibit variable impacts on lung function and contribute to dysfunction of respiratory cilia. Patients with PCD are highly susceptible to chronic respiratory infections. Among them, () is one of the major pathogens, usually leading to severe infections and posing significant treatment challenges. We report the case of a 69-year-old female patient with PCD in variants who had pneumonia and bacteremia due to infection.
纤毛运动障碍可遗传或后天获得。位于5号染色体p15.2上，编码一种含4624个氨基酸的蛋白质，是先天性原发性纤毛运动障碍（PCD）中最常涉及的基因之一。该基因的遗传变异对肺功能有不同影响，并导致呼吸道纤毛功能障碍。PCD患者极易发生慢性呼吸道感染。其中，铜绿假单胞菌是主要病原体之一，通常导致严重感染并带来重大治疗挑战。我们报告了一例69岁患有该基因突变型PCD的女性患者，她因铜绿假单胞菌感染而患肺炎和菌血症。
