Treacher Collins综合征伴发上呼吸道梗阻诊治的研究进展

Progress of diagnosis and treatment of upper respiratory obstruction in patients with Treacher Collins syndrome

目的对Treacher Collins综合征(Treacher Collins syndrome,TCS)伴发上呼吸道梗阻诊治的研究进展作一综述。方法广泛查阅国内外有关TCS伴发上呼吸道梗阻诊治的研究文献,并进行总结分析。结果 TCS是一种先天性颅面发育异常,常伴有上下颌骨发育不全、舌后坠等呼吸道组织发育异常,导致不同程度上呼吸道梗阻症状。对于TCS伴发上呼吸道梗阻应早期明确梗阻原因,采用针对性治疗方法,以避免严重并发症发生。结论由于TCS发病率低,目前仍缺乏高质量研究证据指导临床治疗,需要进行大样本前瞻性研究,为TCS伴发上呼吸道梗阻的治疗及预防提供新思路。

Objective To summarize the progress of diagnosis and treatment of upper respiratory obstruction in patients with Treacher Collins syndrome(TCS). Methods The domestic and abroad literature about the diagnosis and treatment of upper respiratory obstruction in patients with TCS was extensively reviewed and analyzed. Results TCS is an autosomal-dominant craniofacial developmental syndrome. It is often accompanied by midface and/or mandibular hypoplasia, soft tissue hypertrophy, and other respiratory tissue developmental abnormalities, which can lead to different degrees of upper respiratory obstruction symptoms. Respiratory obstruction in patients with TCS is affected by many factors, and the obstructive degree are different. Early detection of the causes and obstructive sites and adopted targeted treatments can relieve the symptoms of respiratory obstruction and avoid severe complications. Conclusion Due to the low incidence of TCS, there is still a lack of high-quality research evidence to guide clinical treatment. Large-scale and prospective clinical studies are needed to provide new ideas for the treatment and prevention of upper respiratory obstruction.