Sienko Susan, Tucker Carol, Welborn Michelle Cameron
Shriners Children's Portland, 3101 SW Sam Jackson Park Rd, Portland, OR, 97239, USA.
School of Health Professions, University of Texas Medical Branch, 301 University Boulevard, Galveston, TX, 77555-1124, USA.
Spine Deform. 2023 Mar;11(2):391-398. doi: 10.1007/s43390-022-00600-x. Epub 2022 Nov 12.
IRB approved retrospective review of the the SHOnet (Shriners Health Outcomes Network).
Osteogenesis imperfecta (OI) is the most prevalent genetic disorder of bone and connective tissue in the pediatric population, with an incidence of 1/15,000-20,000. Scoliosis has been reported to be present in 39-100% of OI patients and may continue to progress into adulthood but there is little information on the perioperative outcomes, rates of revision surgery and complications in this fragile population. The purpose of this study is to examine the prevalence of scoliosis in the OI population across a tertiary care multihospital system. The rate at which these patients progress to surgery, the perioperative complication rate and if there is an association between complications and age at surgical intervention, pre-operative Cobb angle, number of fractures, and type of OI. Incidence of scoliosis in OI may be lower than previously reported, many may never require surgical intervention and those that do require surgical intervention have an 8% reoperation rate at an average of 3.3 years postop.
IRB approved retrospective review of the the SHOnet (Shriners Health Outcomes Network), electronic health record data warehouse from January 1, 2011 and December 31, 2017. Inclusion criteria included International Classification of Diseases (ICD) code for osteogenesis imperfecta and scoliosis. The data warehouse was queried for age, gender, presence of vertebral body fractures, proximal junctional kyphosis, basilar invagination, bisphosphonate use, and perioperative complications including postoperative infection.
There were 2372 patients with osteogenesis imperfecta, 429 or 18.1% also had a diagnosis of scoliosis, while 81.9% did not (see Table 1). Only 74 patients (17.2%) of the patients that had scoliosis underwent spine surgery, 12 of which had staged surgery with an average preop thoracic Cobb 58.18 (range 7-115), and thoracolumbar Cobb 59.83 (range 5-145). Six patients (8%) required revision spine surgery. Average time to revision was 3.88 years (6.9-69mo). Bisphosphonate use was present in 35.5% of patients that did not require surgery and in 40.5% that did.
With over 2300 patients, this is the largest study to date on scoliosis in patients with OI. We found that contrary to prior studies which had indicated the incidence of scoliosis ranges from 39 to 100% that it was only present in 18% of our patients. This indicates that the incidence of scoliosis in OI is potentially lower than previously reported, though due to the nature of this study it may be underreported. Furthermore, only 17% of those patients in our study with scoliosis eventually underwent surgery. It is important to note that many patients treated non-operatively had deformity within the operative range, which may indicate that they were not considered good candidates for surgical intervention. Lastly, we found that bisphosphonate use did not appear to affect the likelihood of progression to surgery in this group of patients, though this may be due to later initiation of the bisphosphonate use.
经机构审查委员会（IRB）批准，对SHOnet（施莱宁健康结果网络）进行回顾性研究。
成骨不全症（OI）是儿科人群中最常见的骨骼和结缔组织遗传性疾病，发病率为1/15000 - 20000。据报道，39% - 100%的OI患者存在脊柱侧弯，且可能持续发展至成年，但关于这一脆弱人群围手术期结果、翻修手术率和并发症的信息较少。本研究的目的是调查在一个三级医疗多医院系统中OI人群脊柱侧弯的患病率。这些患者接受手术的进展速度、围手术期并发症发生率，以及并发症与手术干预时的年龄、术前Cobb角、骨折数量和OI类型之间是否存在关联。OI患者中脊柱侧弯的发生率可能低于先前报道，许多患者可能永远不需要手术干预，而那些确实需要手术干预的患者术后平均3.3年的再次手术率为8%。
经IRB批准，对SHOnet（施莱宁健康结果网络）进行回顾性研究，该网络是2011年1月1日至2017年12月31日的电子健康记录数据仓库。纳入标准包括成骨不全症和脊柱侧弯的国际疾病分类（ICD）代码。在数据仓库中查询年龄、性别、椎体骨折情况、近端交界性后凸、基底凹陷、双膦酸盐使用情况以及围手术期并发症，包括术后感染。
共有2372例成骨不全症患者，其中429例（18.1%）也被诊断为脊柱侧弯，81.9%的患者未患脊柱侧弯（见表1）。在患有脊柱侧弯的患者中，只有74例（17.2%）接受了脊柱手术，其中12例接受了分期手术，术前胸椎平均Cobb角为58.18（范围7 - 115），胸腰椎Cobb角为59.83（范围5 - 145）。6例（8%）患者需要进行脊柱翻修手术。翻修的平均时间为3.88年（6.9 - 69个月）。未接受手术的患者中35.5%使用了双膦酸盐，接受手术的患者中这一比例为40.5%。
本研究纳入了超过2300例患者，是迄今为止关于OI患者脊柱侧弯的最大规模研究。我们发现，与先前表明脊柱侧弯发病率在39%至100%之间的研究相反，我们的患者中只有18%患有脊柱侧弯。这表明OI患者中脊柱侧弯的发生率可能低于先前报道，不过由于本研究的性质，可能存在报告不足的情况。此外，在我们研究的脊柱侧弯患者中，只有17%最终接受了手术。需要注意的是，许多接受非手术治疗的患者在手术范围内存在畸形，这可能表明他们不被认为是手术干预的合适人选。最后，我们发现双膦酸盐的使用似乎并未影响该组患者接受手术的可能性，不过这可能是由于双膦酸盐使用开始较晚。
