Maheshati Aoran, Xu Kexin, Li Ziquan, Li Guozhuang, Yin Xiangjie, Li Qing, Liu Di, Wang Shengru, Wu Zhihong, Qiu Guixing, Zhang Baozhong, Zhang Terry Jianguo, Wang Yu, Wu Nan
Department of Orthopedic Surgery, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China.
State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China.
Orthop Surg. 2025 Jul;17(7):2025-2037. doi: 10.1111/os.70072. Epub 2025 May 15.
B3GALT6 -related disorders are characterized by severe early-onset spinal deformities requiring surgical corrections but are associated with increased risks of perioperative complications. This study reports the clinical experience and outcomes of selecting the substantially touched vertebra (STV) as the lowest instrumented vertebra (LIV) in spinal surgeries for patients with B3GALT6 -related disorders, a group of extremely rare skeletal and connective tissue disorders.
This retrospective study included patients who were molecularly diagnosed with B3GALT6 -related disorders and received spinal surgeries for (kypho)scoliosis between 2017 and June 2023. Their medical records were reviewed. We also conducted a systematic literature review to identify (kypho)scoliosis management in patients with B3GALT6 -related disorders.
We identified a total of four patients. Patient 1 presented with severe kyphoscoliosis and segmentation defects and received a pedicle subtraction osteotomy with short fusion and dual growing rods from T3 to L3. However, coronal imbalance was observed at the 18-month follow-up. Genetic testing revealed biallelic disease-causing variants in B3GALT6 . A revision surgery was successfully performed, with the level of the LIV extended to the STV (L4). The LIV was similarly extended to the STV in the index surgery for subsequent Patients 2 and 3 who received preoperative genetic testing results, and no complication has been observed. Patient 4 underwent preoperative Halo-pelvic traction to minimize complications, followed by posterior spinal fusion. The curves were successfully reduced without complications. A systematic literature review identified 86 articles reporting (kypho) scoliosis management in 12 of the 63 patients with B3GALT6 -related disorders. Limited surgical experience has been reported, with an increased rate of complications, including death.
Selecting the STV as the LIV is recommended in spinal surgeries for patients with B3GALT6 -related disorders, considering the characteristic joint hypermobility associated with the condition. Additionally, preoperative Halo-pelvic traction may also be safe and effective. Furthermore, preoperative molecular diagnosis is essential for enabling precision medicine and minimizing complications.
与B3GALT6相关的疾病的特征是严重的早发性脊柱畸形，需要手术矫正，但围手术期并发症风险增加。本研究报告了在为患有B3GALT6相关疾病（一组极其罕见的骨骼和结缔组织疾病）的患者进行脊柱手术时，选择实质受累椎体（STV）作为最低固定椎体（LIV）的临床经验和结果。
这项回顾性研究纳入了2017年至2023年6月间分子诊断为B3GALT6相关疾病并因（后凸）脊柱侧弯接受脊柱手术的患者。对他们的病历进行了回顾。我们还进行了系统的文献综述，以确定B3GALT6相关疾病患者的（后凸）脊柱侧弯治疗方法。
我们共确定了4例患者。患者1表现为严重的脊柱后凸侧弯和节段性缺损，接受了经椎弓根截骨术、短节段融合以及从T3至L3的双生长棒植入。然而，在18个月的随访中观察到冠状面失衡。基因检测显示B3GALT6存在双等位基因致病变异。成功进行了翻修手术，将LIV水平扩展至STV（L4）。在随后接受术前基因检测结果的患者2和患者3的初次手术中，LIV同样扩展至STV，且未观察到并发症。患者4在术前进行了头盆牵引以尽量减少并发症，随后进行了后路脊柱融合术。侧弯成功矫正，无并发症发生。系统的文献综述确定了86篇报告，涉及63例B3GALT6相关疾病患者中12例的（后凸）脊柱侧弯治疗。已报道的手术经验有限，并发症发生率增加，包括死亡。
考虑到与该疾病相关的特征性关节活动过度，对于患有B3GALT6相关疾病的患者，建议在脊柱手术中选择STV作为LIV。此外，术前头盆牵引也可能是安全有效的。此外，术前分子诊断对于实现精准医疗和减少并发症至关重要。
