原发性纤毛运动障碍的临床特征分析

目的探讨原发性纤毛运动障碍（primary ciliary dyskinesia，PCD）的临床特征及诊治。方法3例临床表现为鼻窦炎的PCD患者行鼻内镜鼻窦手术，其中2例男性患者为双胞胎，另1例女性患者为孪生兄妹，但其兄无类似表现。术前取患者下鼻甲黏膜进行纤毛超微结构观察，取女性患者及其孪生哥哥的静脉血进行DNAH5基因检测和染色体分析；定期随访观察术腔恢复状况。结果鼻腔鼻窦CT显示所有患者均为全组鼻窦炎症（1例影像学资料显示内脏反位，符合卡塔格内综合征表现），鼻内镜下切除鼻息肉、开放全组鼻窦，孪生兄弟切除肥大的腺样体。术后随访2—4年，鼻腔通气改善，术腔恢复良好，但仍有较多黏液性分泌物。电镜检查显示下鼻甲黏膜纤毛外侧动力蛋白臂缺失，DNAH5基因9个外显子检测和染色体分析未见异常。结论鼻腔鼻窦结构的微创手术可改善PCD患者的相关症状，纤毛超微结构改变是其病理变化的重要标志，分子生物学检测还需深入研究。

Clinical features of primary ciliary dyskinesia

OBJECTIVE: To investigate the clinical features, diagnosis and treatment of primary ciliary dyskinesia (PCD). METHODS: Three cases of PCD received endoscopic sinus surgery and were followed up for life quality and recovery. Among these 3 cases, two were twin brothers and the other girl was twin born with a healthy brother. The mucosa of inferior turbinate was extracted prior to the operation without narcotic and decongestant. The ultrastructure of mucosal cilia was detected with electron microscope. Nine exons of gene DNAH5 and chromosome in one case and her fraternal twin were evaluated. RESULTS: Nasal and sinus CT imaging of the 3 cases showed chronic pansinusitis (1 case accompanied with situs inversus according with the diagnosis of Kartagener syndrome). The nasal polyp was resected, and the sinuses were opened. The twin brothers received the adenoidectomy. All patients felt nasal ventilation improved while the surgical field still covered with thick discharges during follow-up for 2 - 4 years. Ciliary ultrastructures of the three cases showed lateral dynein absent, the sequence of 9 exons of DNAH5 and chromosome presented no change in the fraternal twins. CONCLUSIONS: Surgery could improve the symptoms of sinusitis in PCD. Change of ciliary ultrastructure was an important indication of its pathological changes and molecular biology evaluation needs further study.