Abstract：
The objective of this study was to describe the incidence and management of hydrocephalus in patients with achondroplasia over a 60-year period at four skeletal dysplasia centers.
The Achondroplasia Natural History Study (CLARITY) is a registry for clinical data from achondroplasia patients receiving treatment at four skeletal dysplasia centers in the US from 1957 to 2017. Data were entered and stored in a REDCap database and included surgeries with indications and complications, medical diagnoses, and radiographic information.
A total of 1374 patients with achondroplasia were included in this study. Of these, 123 (9%) patients underwent treatment of hydrocephalus at a median age of 14.4 months. There was considerable variation in the percentage of patients treated for hydrocephalus by center and decade of birth, ranging from 0% to 28%, although in the most recent decade, all centers treated less than 6% of their patients, with an average of 2.9% across all centers. Undergoing a cervicomedullary decompression (CMD) was a strong predictor for treatment of hydrocephalus (OR 5.8, 95% CI 3.9-8.4), although that association has disappeared in those born since 2010 (OR 1.1, 95% CI 0.2-5.7). In patients born since 1990, treatment of hydrocephalus with endoscopic third ventriculostomy (ETV) has become more common; it was used as the first line of treatment in 38% of patients in the most recent decade. Kaplan-Meier analysis suggests that a single ETV will treat hydrocephalus in roughly half of these patients.
While many children with achondroplasia have features of hydrocephalus with enlarged intracranial CSF spaces and relative macrocephaly, treatment of hydrocephalus in achondroplasia patients has become relatively uncommon in the last 20 years. Historically, there was a significant association between symptomatic foramen magnum stenosis and treatment of hydrocephalus, although concurrent treatment of both has fallen out of favor with the recognition that CMD alone will treat hydrocephalus in some patients. Despite good experimental data demonstrating that hydrocephalus in achondroplasia is best understood as communicating in nature, ETV appears to be reasonably successful in certain patients and should be considered an option in selected patients.
The Achondroplasia Natural History Study (CLARITY) is a registry for clinical data from achondroplasia patients receiving treatment at four skeletal dysplasia centers in the US from 1957 to 2017. Data were entered and stored in a REDCap database and included surgeries with indications and complications, medical diagnoses, and radiographic information.
A total of 1374 patients with achondroplasia were included in this study. Of these, 123 (9%) patients underwent treatment of hydrocephalus at a median age of 14.4 months. There was considerable variation in the percentage of patients treated for hydrocephalus by center and decade of birth, ranging from 0% to 28%, although in the most recent decade, all centers treated less than 6% of their patients, with an average of 2.9% across all centers. Undergoing a cervicomedullary decompression (CMD) was a strong predictor for treatment of hydrocephalus (OR 5.8, 95% CI 3.9-8.4), although that association has disappeared in those born since 2010 (OR 1.1, 95% CI 0.2-5.7). In patients born since 1990, treatment of hydrocephalus with endoscopic third ventriculostomy (ETV) has become more common; it was used as the first line of treatment in 38% of patients in the most recent decade. Kaplan-Meier analysis suggests that a single ETV will treat hydrocephalus in roughly half of these patients.
While many children with achondroplasia have features of hydrocephalus with enlarged intracranial CSF spaces and relative macrocephaly, treatment of hydrocephalus in achondroplasia patients has become relatively uncommon in the last 20 years. Historically, there was a significant association between symptomatic foramen magnum stenosis and treatment of hydrocephalus, although concurrent treatment of both has fallen out of favor with the recognition that CMD alone will treat hydrocephalus in some patients. Despite good experimental data demonstrating that hydrocephalus in achondroplasia is best understood as communicating in nature, ETV appears to be reasonably successful in certain patients and should be considered an option in selected patients.
摘要：
目的：本研究的目的是描述四个骨骼发育不良中心60年间软骨发育不全患者脑积水的发生率和治疗。
方法：软骨发育不良自然史研究（CLARITY）是一项登记，记录了1957年至2017年在美国四个骨骼发育不良中心接受治疗的软骨发育不全患者的临床数据。数据输入并存储在REDCap数据库中，包括有适应症和并发症的手术。医学诊断,和射线照相信息。
结果：本研究共纳入1374例软骨发育不全患者。其中,123例（9％）患者在中位年龄为14.4个月时接受了脑积水治疗。不同的中心和出生十年，治疗脑积水的患者百分比差异很大，从0%到28%，尽管在最近的十年里，所有中心治疗不到6%的患者，所有中心的平均值为2.9%。接受颈髓腔减压术(CMD)是治疗脑积水的有力预测因子(OR5.8,95%CI3.9-8.4),尽管这种关联在2010年以后出生的人群中已经消失(OR1.1,95%CI0.2-5.7).在1990年以来出生的患者中，使用内窥镜第三脑室造口术（ETV）治疗脑积水变得越来越普遍；在最近十年中，38％的患者将其用作一线治疗。Kaplan-Meier分析表明，单个ETV将治疗这些患者中大约一半的脑积水。
结论：虽然许多患有软骨发育不全的儿童具有脑积水的特征，颅内脑脊液间隙增大和相对的大头畸形，在过去的20年中，软骨发育不全患者的脑积水治疗变得相对少见。历史上,有症状的大孔狭窄和脑积水的治疗之间有显著的关联，尽管由于认识到仅CMD可以治疗某些患者的脑积水，因此两者的同时治疗已不受欢迎。尽管良好的实验数据表明软骨发育不全中的脑积水最好被理解为自然界中的交流，ETV在某些患者中似乎相当成功，应在选定的患者中考虑一种选择。
方法：软骨发育不良自然史研究（CLARITY）是一项登记，记录了1957年至2017年在美国四个骨骼发育不良中心接受治疗的软骨发育不全患者的临床数据。数据输入并存储在REDCap数据库中，包括有适应症和并发症的手术。医学诊断,和射线照相信息。
结果：本研究共纳入1374例软骨发育不全患者。其中,123例（9％）患者在中位年龄为14.4个月时接受了脑积水治疗。不同的中心和出生十年，治疗脑积水的患者百分比差异很大，从0%到28%，尽管在最近的十年里，所有中心治疗不到6%的患者，所有中心的平均值为2.9%。接受颈髓腔减压术(CMD)是治疗脑积水的有力预测因子(OR5.8,95%CI3.9-8.4),尽管这种关联在2010年以后出生的人群中已经消失(OR1.1,95%CI0.2-5.7).在1990年以来出生的患者中，使用内窥镜第三脑室造口术（ETV）治疗脑积水变得越来越普遍；在最近十年中，38％的患者将其用作一线治疗。Kaplan-Meier分析表明，单个ETV将治疗这些患者中大约一半的脑积水。
结论：虽然许多患有软骨发育不全的儿童具有脑积水的特征，颅内脑脊液间隙增大和相对的大头畸形，在过去的20年中，软骨发育不全患者的脑积水治疗变得相对少见。历史上,有症状的大孔狭窄和脑积水的治疗之间有显著的关联，尽管由于认识到仅CMD可以治疗某些患者的脑积水，因此两者的同时治疗已不受欢迎。尽管良好的实验数据表明软骨发育不全中的脑积水最好被理解为自然界中的交流，ETV在某些患者中似乎相当成功，应在选定的患者中考虑一种选择。
