Abstract：
The purpose of this study was to describe the frequency and risk factors for orthopedic surgery in patients with achondroplasia. CLARITY (The Achondroplasia Natural History Study) includes clinical data from achondroplasia patients receiving treatment at four skeletal dysplasia centers in the United States from 1957 to 2018. Data were entered and stored in a Research Electronic Data Capture (REDCap) database.
Information from one thousand three hundred and seventy-four patients with achondroplasia were included in this study. Four hundred and eight (29.7%) patients had at least one orthopedic surgery during their lifetime and 299 (21.8%) patients underwent multiple procedures. 12.7% (n = 175) of patients underwent spine surgery at a mean age at first surgery of 22.4 ± 15.3 years old. The median age was 16.7 years old (0.1-67.4). 21.2% (n = 291) of patients underwent lower extremity surgery at a mean age at first surgery of 9.9 ± 8.3 years old with a median age of 8.2 years (0.2-57.8). The most common spinal procedure was decompression (152 patients underwent 271 laminectomy procedures), while the most common lower extremity procedure was osteotomy (200 patients underwent 434 procedures). Fifty-eight (4.2%) patients had both a spine and lower extremity surgery. Specific risk factors increasing the likelihood of orthopedic surgery included: patients with hydrocephalus requiring shunt placement having higher odds of undergoing spine surgery (OR 1.97, 95% CI 1.14-3.26); patients having a cervicomedullary decompression also had higher odds of undergoing spine surgery (OR 1.85, 95% CI 1.30-2.63); and having lower extremity surgery increased the odds of spine surgery (OR 2.05, 95% CI 1.45-2.90).
Orthopedic surgery was a common occurrence in achondroplasia with 29.7% of patients undergoing at least one orthopedic procedure. Spine surgery (12.7%) was less common and occurred at a later age than lower extremity surgery (21.2%). Cervicomedullary decompression and hydrocephalus with shunt placement were associated with an increased risk for spine surgery. The results from CLARITY, the largest natural history study of achondroplasia, should aid clinicians in counseling patients and families about orthopedic surgery.
Information from one thousand three hundred and seventy-four patients with achondroplasia were included in this study. Four hundred and eight (29.7%) patients had at least one orthopedic surgery during their lifetime and 299 (21.8%) patients underwent multiple procedures. 12.7% (n = 175) of patients underwent spine surgery at a mean age at first surgery of 22.4 ± 15.3 years old. The median age was 16.7 years old (0.1-67.4). 21.2% (n = 291) of patients underwent lower extremity surgery at a mean age at first surgery of 9.9 ± 8.3 years old with a median age of 8.2 years (0.2-57.8). The most common spinal procedure was decompression (152 patients underwent 271 laminectomy procedures), while the most common lower extremity procedure was osteotomy (200 patients underwent 434 procedures). Fifty-eight (4.2%) patients had both a spine and lower extremity surgery. Specific risk factors increasing the likelihood of orthopedic surgery included: patients with hydrocephalus requiring shunt placement having higher odds of undergoing spine surgery (OR 1.97, 95% CI 1.14-3.26); patients having a cervicomedullary decompression also had higher odds of undergoing spine surgery (OR 1.85, 95% CI 1.30-2.63); and having lower extremity surgery increased the odds of spine surgery (OR 2.05, 95% CI 1.45-2.90).
Orthopedic surgery was a common occurrence in achondroplasia with 29.7% of patients undergoing at least one orthopedic procedure. Spine surgery (12.7%) was less common and occurred at a later age than lower extremity surgery (21.2%). Cervicomedullary decompression and hydrocephalus with shunt placement were associated with an increased risk for spine surgery. The results from CLARITY, the largest natural history study of achondroplasia, should aid clinicians in counseling patients and families about orthopedic surgery.
摘要：
背景：这项研究的目的是描述软骨发育不全患者进行骨科手术的频率和危险因素。CLARITY（软骨发育不良自然史研究）包括1957年至2018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。输入数据并存储在研究电子数据捕获(REDCap)数据库中。
结果：这项研究纳入了来自一千三百七十四名软骨发育不全患者的信息。四百八位（29.7％）患者在其一生中至少进行了一次骨科手术，而299位（21.8％）患者接受了多次手术。12.7％（n=175）的患者在首次手术时平均年龄为22.4±15.3岁时接受了脊柱手术。中位年龄为16.7岁（0.1-67.4）。21.2％（n=291）的患者接受了下肢手术，首次手术的平均年龄为9.9±8.3岁，中位年龄为8.2岁（0.2-57.8）。最常见的脊柱手术是减压术（152例患者接受了271个椎板切除术），而最常见的下肢手术是截骨术(200例患者接受了434例手术)。58例（4.2％）患者同时进行了脊柱和下肢手术。增加骨科手术可能性的特定风险因素包括：需要分流术的脑积水患者接受脊柱手术的几率较高（OR1.97，95％CI1.14-3.26）；进行颈髓内减压的患者接受脊柱手术的几率也较高（OR1.85，95％CI1.30-2.63）；下肢手术增加了脊柱手术的几率（OR2.05，95％CI1.45-2.90）。
结论：骨科手术是软骨发育不全的常见病，29.7%的患者至少接受过一次骨科手术。脊柱手术（12.7％）较下肢手术（21.2％）少见，并且发生在更晚的年龄。颈髓减压和分流术放置的脑积水与脊柱手术的风险增加有关。来自CLARITY的结果，最大的软骨发育不全的自然史研究，应帮助临床医生就骨科手术咨询患者和家属。
结果：这项研究纳入了来自一千三百七十四名软骨发育不全患者的信息。四百八位（29.7％）患者在其一生中至少进行了一次骨科手术，而299位（21.8％）患者接受了多次手术。12.7％（n=175）的患者在首次手术时平均年龄为22.4±15.3岁时接受了脊柱手术。中位年龄为16.7岁（0.1-67.4）。21.2％（n=291）的患者接受了下肢手术，首次手术的平均年龄为9.9±8.3岁，中位年龄为8.2岁（0.2-57.8）。最常见的脊柱手术是减压术（152例患者接受了271个椎板切除术），而最常见的下肢手术是截骨术(200例患者接受了434例手术)。58例（4.2％）患者同时进行了脊柱和下肢手术。增加骨科手术可能性的特定风险因素包括：需要分流术的脑积水患者接受脊柱手术的几率较高（OR1.97，95％CI1.14-3.26）；进行颈髓内减压的患者接受脊柱手术的几率也较高（OR1.85，95％CI1.30-2.63）；下肢手术增加了脊柱手术的几率（OR2.05，95％CI1.45-2.90）。
结论：骨科手术是软骨发育不全的常见病，29.7%的患者至少接受过一次骨科手术。脊柱手术（12.7％）较下肢手术（21.2％）少见，并且发生在更晚的年龄。颈髓减压和分流术放置的脑积水与脊柱手术的风险增加有关。来自CLARITY的结果，最大的软骨发育不全的自然史研究，应帮助临床医生就骨科手术咨询患者和家属。
