目的:作者试图确定软骨发育不全患者颈髓腔减压术(CMD)的总体发生率,以及与这些手术相关的多个机构的特征,这些机构具有护理骨骼发育不良患者的经验。
方法:来自CLARITY(软骨发育不良自然史研究)的数据来自四个骨骼发育不良中心的1374例软骨发育不全患者(A.I.杜邦儿童医院,约翰霍普金斯大学,德克萨斯大学健康,和威斯康星大学医学与公共卫生学院)从1957年到2017年被记录在研究电子数据捕获(REDCap)数据库中。收集和分析的数据包括手术,适应症,并发症,手术时的年龄,筛选程序,和医学诊断。
结果:在281例患者中进行了314次CMD手术(占整个队列的20.5%)。男性首次CMD的中位年龄为1.3岁,女性为1.1岁。随着时间的推移,首次CMD时患者的中位年龄有所下降.所有1980年之前出生的接受CMD的患者在5岁后接受了手术,而98%的2010年以后出生的患者在5岁之前接受了CMD.此外,在最近几十年出生的患者中,在CMD之前有神经影像学和多导睡眠图(PSG)记录的比例更高.接受CMD的患者(23%)比整个队列(8%)更频繁地放置脑室腹膜分流器(VPS)。需要CMD或VPS的患者需要两种手术的可能性是不需要两种手术的患者的7倍(OR7.0,95%CI4.66-10.53;p<0.0001)。总的来说,接受CMD的患者中有10.3%需要随后的CMD。
结论:在这个大型软骨发育不全队列中,CMD的患病率为20%,与早期患者相比,最近接受治疗的患者在较年轻的年龄接受了首次CMD。神经影像学和PSG筛查模式的使用随着时间的推移而增加,提示更多和更好的监测有助于早期发现和干预颈髓狭窄及其并发症患者.
The authors sought to determine the overall incidence of cervicomedullary decompression (CMD) in patients with achondroplasia and the characteristics associated with those surgeries across multiple institutions with experience caring for individuals with skeletal dysplasias.
Data from CLARITY (Achondroplasia Natural History Study) for 1374 patients with achondroplasia from four skeletal dysplasia centers (A. I. duPont Hospital for Children, Johns Hopkins University, University of Texas Health, and University of Wisconsin School of Medicine and Public Health) followed from 1957 to 2017 were recorded in a Research Electronic Data Capture (REDCap) database. Data collected and analyzed included surgeries, indications, complications, ages at time of procedures, screening procedures, and medical diagnoses.
There were 314 CMD procedures in 281 patients (20.5% of the entire cohort). The median age of first CMD was 1.3 years in males and 1.1 years in females. Over time, there was a decrease in the median age of patients at first CMD. All patients born before 1980 who underwent CMD had the procedure after 5 years of age, whereas 98% of patients born after 2010 underwent CMD before 5 years of age. In addition, a greater proportion of patients born in more recent decades had documented neuroimaging and polysomnography (PSG) prior to CMD. Ventriculoperitoneal shunts (VPSs) were placed more frequently in patients undergoing CMD (23%) than in the entire cohort (8%). Patients who required either CMD or VPS were 7 times more likely to require both surgeries than patients who required neither surgery (OR 7.0, 95% CI 4.66-10.53; p < 0.0001). Overall, 10.3% of patients who underwent CMD required a subsequent CMD.
The prevalence of CMD in this large achondroplasia cohort was 20%, with more recently treated patients undergoing first CMD at younger ages than earlier patients. The use of neuroimaging and PSG screening modalities increased over time, suggesting that increased and better surveillance contributed to earlier identification and intervention in patients with cervicomedullary stenosis and its complications.