用髓内钉矫正x连锁低磷血症（XLH）下肢畸形：减少畸形复发和改善肢体功能的策略

IF 3.6 2区医学 Q2 ENDOCRINOLOGY & METABOLISM

Bone Pub Date : 2025-08-22 DOI:10.1016/j.bone.2025.117611

Gregor Toporowski , Adrien Frommer , Robert Roedl , Georg Gosheger , Andrea Laufer , Henning Tretow , Bjoern Vogt

{"title":"用髓内钉矫正x连锁低磷血症（XLH）下肢畸形：减少畸形复发和改善肢体功能的策略","authors":"Gregor Toporowski , Adrien Frommer , Robert Roedl , Georg Gosheger , Andrea Laufer , Henning Tretow , Bjoern Vogt","doi":"10.1016/j.bone.2025.117611","DOIUrl":null,"url":null,"abstract":"<div><h3>Purpose</h3><div>X-linked hypophosphatemia (XLH) is a rare metabolic disorder leading to impaired bone mineralization and rickets. Severely affected patients often develop complex, three-dimensional lower limb deformities, resulting in pain and reduced mobility. Although various surgical approaches have been described, deformity recurrence remains common. This study retrospectively analyzed the outcomes of multilevel deformity correction using intramedullary nails (IN) in patients with XLH.</div></div><div><h3>Methods</h3><div>Between 2002 and 2022, 45 lower limb reconstructions involving 165 osteotomies were performed in 26 XLH patients using femoral IN (retrograde) and tibial IN (antegrade). Each leg required two to five osteotomies. The age at surgery was 24 ± 13.8 years. Clinical and radiographic evaluations were conducted pre- and postoperatively.</div></div><div><h3>Results</h3><div>The follow-up was 76.7 ± 49.2 months. Mechanical axis deviation improved significantly from 54.3 ± 31.0 mm to 12.8 ± 8.9 mm (<em>p</em> < 0.0001). The mechanical lateral distal femoral angle improved from 99.0° ± 10.9° to 90.5° ± 4.4° (<em>p</em> < 0.0001), the medial proximal tibial angle from 80.7° ± 8.0° to 87.4° ± 3.1° (<em>p</em> < 0.001), and the posterior proximal tibial angle from 76.7° ± 9.0° to 80.4° ± 4.2° (<em>p</em> = 0.018). Lower Extremity Functional Scale scores improved from 45 ± 12 to 55 ± 12 (<em>p</em> < 0.01). Deformity recurrence occurred in 2/43 limbs (4.7 %), both revised. Complications arose in 17/45 limbs (37.8 %), of which 14 (31.1 %) required revision surgery, primarily screw removal or osteophyte resection (8/45, 17.8 %). Malunion occurred in 2/45 (4.4 %), implant-related infections in 3/45 (6.7 %).</div></div><div><h3>Conclusion</h3><div>IN-based deformity correction of lower limbs in XLH provides effective, long-term correction with low recurrence. Despite frequent complications, most patients experience functional improvement. Nail retention is recommended to prevent fractures and recurrences.</div></div>","PeriodicalId":9301,"journal":{"name":"Bone","volume":"200 ","pages":"Article 117611"},"PeriodicalIF":3.6000,"publicationDate":"2025-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Lower limb deformity correction in X-linked hypophosphatemia (XLH) with intramedullary nails: A strategy to reduce deformity recurrence and improve limb function\",\"authors\":\"Gregor Toporowski , Adrien Frommer , Robert Roedl , Georg Gosheger , Andrea Laufer , Henning Tretow , Bjoern Vogt\",\"doi\":\"10.1016/j.bone.2025.117611\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><h3>Purpose</h3><div>X-linked hypophosphatemia (XLH) is a rare metabolic disorder leading to impaired bone mineralization and rickets. Severely affected patients often develop complex, three-dimensional lower limb deformities, resulting in pain and reduced mobility. Although various surgical approaches have been described, deformity recurrence remains common. This study retrospectively analyzed the outcomes of multilevel deformity correction using intramedullary nails (IN) in patients with XLH.</div></div><div><h3>Methods</h3><div>Between 2002 and 2022, 45 lower limb reconstructions involving 165 osteotomies were performed in 26 XLH patients using femoral IN (retrograde) and tibial IN (antegrade). Each leg required two to five osteotomies. The age at surgery was 24 ± 13.8 years. Clinical and radiographic evaluations were conducted pre- and postoperatively.</div></div><div><h3>Results</h3><div>The follow-up was 76.7 ± 49.2 months. Mechanical axis deviation improved significantly from 54.3 ± 31.0 mm to 12.8 ± 8.9 mm (<em>p</em> < 0.0001). The mechanical lateral distal femoral angle improved from 99.0° ± 10.9° to 90.5° ± 4.4° (<em>p</em> < 0.0001), the medial proximal tibial angle from 80.7° ± 8.0° to 87.4° ± 3.1° (<em>p</em> < 0.001), and the posterior proximal tibial angle from 76.7° ± 9.0° to 80.4° ± 4.2° (<em>p</em> = 0.018). Lower Extremity Functional Scale scores improved from 45 ± 12 to 55 ± 12 (<em>p</em> < 0.01). Deformity recurrence occurred in 2/43 limbs (4.7 %), both revised. Complications arose in 17/45 limbs (37.8 %), of which 14 (31.1 %) required revision surgery, primarily screw removal or osteophyte resection (8/45, 17.8 %). Malunion occurred in 2/45 (4.4 %), implant-related infections in 3/45 (6.7 %).</div></div><div><h3>Conclusion</h3><div>IN-based deformity correction of lower limbs in XLH provides effective, long-term correction with low recurrence. Despite frequent complications, most patients experience functional improvement. Nail retention is recommended to prevent fractures and recurrences.</div></div>\",\"PeriodicalId\":9301,\"journal\":{\"name\":\"Bone\",\"volume\":\"200 \",\"pages\":\"Article 117611\"},\"PeriodicalIF\":3.6000,\"publicationDate\":\"2025-08-22\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Bone\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S8756328225002236\",\"RegionNum\":2,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"ENDOCRINOLOGY & METABOLISM\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Bone","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S8756328225002236","RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"ENDOCRINOLOGY & METABOLISM","Score":null,"Total":0}

引用次数: 0

摘要

目的：相关性低磷血症（XLH）是一种罕见的代谢紊乱，导致骨矿化受损和佝偻病。严重的患者通常会出现复杂的三维下肢畸形，导致疼痛和活动能力降低。尽管各种手术方法已被描述，但畸形复发仍然很常见。本研究回顾性分析了采用髓内钉（IN）对XLH患者进行多节段畸形矫正的结果。方法2002年至2022年间，对26例XLH患者进行45例下肢重建，共165例截骨术，采用股骨内嵌（逆行）和胫骨内嵌（顺行）。每条腿需要做2到5次截骨手术。手术年龄24±13.8岁。术前和术后均进行临床和影像学评价。结果随访76.7±49.2个月。机械轴偏差由54.3±31.0 mm显著改善至12.8±8.9 mm （p < 0.0001）。机械股骨外侧远端角度从99.0°±10.9°改善到90.5°±4.4°（p < 0.0001），胫骨内侧近端角度从80.7°±8.0°改善到87.4°±3.1°（p < 0.001），胫骨后部近端角度从76.7°±9.0°改善到80.4°±4.2°（p = 0.018）。下肢功能量表评分从45±12分提高到55±12分（p < 0.01）。2/43（4.7%）肢体发生畸形复发，均经修复。17/45例肢体出现并发症（37.8%），其中14例（31.1%）需要翻修手术，主要是螺钉取出或骨赘切除（8/45,17.8%）。2/45（4.4%）发生不愈合，3/45（6.7%）发生种植体相关感染。结论基于人工神经网络的下肢畸形矫治可有效、长期矫正XLH，复发率低。尽管经常出现并发症，但大多数患者的功能得到改善。建议保留指甲以防止骨折和复发。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

查看原文本刊更多论文

Lower limb deformity correction in X-linked hypophosphatemia (XLH) with intramedullary nails: A strategy to reduce deformity recurrence and improve limb function

Purpose

X-linked hypophosphatemia (XLH) is a rare metabolic disorder leading to impaired bone mineralization and rickets. Severely affected patients often develop complex, three-dimensional lower limb deformities, resulting in pain and reduced mobility. Although various surgical approaches have been described, deformity recurrence remains common. This study retrospectively analyzed the outcomes of multilevel deformity correction using intramedullary nails (IN) in patients with XLH.

Methods

Between 2002 and 2022, 45 lower limb reconstructions involving 165 osteotomies were performed in 26 XLH patients using femoral IN (retrograde) and tibial IN (antegrade). Each leg required two to five osteotomies. The age at surgery was 24 ± 13.8 years. Clinical and radiographic evaluations were conducted pre- and postoperatively.

Results

The follow-up was 76.7 ± 49.2 months. Mechanical axis deviation improved significantly from 54.3 ± 31.0 mm to 12.8 ± 8.9 mm (p < 0.0001). The mechanical lateral distal femoral angle improved from 99.0° ± 10.9° to 90.5° ± 4.4° (p < 0.0001), the medial proximal tibial angle from 80.7° ± 8.0° to 87.4° ± 3.1° (p < 0.001), and the posterior proximal tibial angle from 76.7° ± 9.0° to 80.4° ± 4.2° (p = 0.018). Lower Extremity Functional Scale scores improved from 45 ± 12 to 55 ± 12 (p < 0.01). Deformity recurrence occurred in 2/43 limbs (4.7 %), both revised. Complications arose in 17/45 limbs (37.8 %), of which 14 (31.1 %) required revision surgery, primarily screw removal or osteophyte resection (8/45, 17.8 %). Malunion occurred in 2/45 (4.4 %), implant-related infections in 3/45 (6.7 %).

Conclusion

IN-based deformity correction of lower limbs in XLH provides effective, long-term correction with low recurrence. Despite frequent complications, most patients experience functional improvement. Nail retention is recommended to prevent fractures and recurrences.

求助全文

通过发布文献求助，成功后即可免费获取论文全文。去求助

来源期刊

Bone 医学-内分泌学与代谢

CiteScore

8.90

自引率

4.90%

发文量

264

审稿时长

30 days

期刊介绍： BONE is an interdisciplinary forum for the rapid publication of original articles and reviews on basic, translational, and clinical aspects of bone and mineral metabolism. The Journal also encourages submissions related to interactions of bone with other organ systems, including cartilage, endocrine, muscle, fat, neural, vascular, gastrointestinal, hematopoietic, and immune systems. Particular attention is placed on the application of experimental studies to clinical practice.