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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。
Objective To investigate the clinical features and diagnosis and treatment of primary ciliary dyskinesia (PCD). Methods Three cases of PCD with sinusitis were treated with endoscopic sinus surgery. Among them, two male patients were twins and the other female patients were twin siblings, but their brother had no similar symptoms. Preoperative patients under the inferior turbinate mucosa were observed ultrastructure of cilia, female patients and their twin brother’s venous blood DNAH5 gene detection and chromosome analysis; regular follow-up to observe the recovery of the surgical cavity. Results Nasal sinus CT showed that all the patients had sinusitis in the whole group (one case showed visceral anti-bit in accordance with the performance of Catargay’s syndrome), nasal endoscopic resection of nasal polyps, opening of whole group of sinuses and twin brothers Hypertrophic adenoids. Follow-up 2 to 4 years after surgery, nasal ventilation improved, the cavity recovered well, but there are still more mucus secretions. Electron microscopy showed loss of the lateral PT protein arm of the inferior turbinate mucosa, and no abnormalities were detected in 9 exons of DNAH5 gene and chromosomal analysis. Conclusion Minimally invasive surgery of nasal and sinus structures can improve the related symptoms of PCD patients. The ultrastructure changes of cilia are important markers of pathological changes. Molecular biology testing needs further study.