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X连锁遗传性低磷血症性佝偻病患儿骨骼畸形的非手术治疗策略:见解与展望

Non-Surgical Strategies for Managing Skeletal Deformities in a Child with X-Linked Hereditary Hypophosphatemic Ricket: Insights and Perspectives.

作者信息

Tie Tung-Hee, Lin Wei-Han, Huang Ming-Tung, Wu Po-Ting, Tsai Meng-Che, Chou Yen-Yin, Hong Chih-Kai, Lin Chii-Jeng, Shih Chien-An

机构信息

Department of Orthopedics, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan 704, Taiwan.

Medical Device R & D Core Laboratory, National Cheng Kung University Hospital, Tainan 704, Taiwan.

出版信息

Children (Basel). 2024 Apr 18;11(4):487. doi: 10.3390/children11040487.

Abstract

This case report sheds light on the management of skeletal deformity in a young child with X-linked hypophosphatemia (XLH), emphasizing the significance of a timely orthotic intervention alongside pharmacological treatment, which is a strategy not frequently highlighted in the XLH literature. The patient, a 2-year-and-7-month-old female, presented with classic XLH symptoms, including short stature, pronounced genu varum, and hypophosphatemia, with deformities observed in both the coronal and sagittal planes of the femur and tibia. Despite initial reliance on pharmacotherapy, which proved insufficient for skeletal realignment, the integration of orthotic treatment at age 3 marked a pivotal turn in the management strategy. By the age of 5 years and 9 months, this combined approach yielded significant improvements: the deformities in the femur and tibia were notably corrected, tibial torsion was addressed, and enhanced limb alignment was achieved, as corroborated by radiographic evidence. This case underscores the effectiveness of orthotic intervention as a critical and underemphasized adjunct to pharmacological therapy in managing XLH in early childhood. It advocates for the early inclusion of orthotic measures to optimize treatment outcomes and expand the range of management strategies for limb deformities.

摘要

本病例报告揭示了一名患有X连锁低磷血症(XLH)幼儿骨骼畸形的管理情况,强调了在药物治疗的同时及时进行矫形干预的重要性,这是XLH文献中不常强调的一种策略。该患者为一名2岁7个月大的女性,表现出典型的XLH症状,包括身材矮小、明显的膝内翻和低磷血症,在股骨和胫骨的冠状面和矢状面均观察到畸形。尽管最初依赖药物治疗,但事实证明其不足以实现骨骼矫正,3岁时采用矫形治疗标志着管理策略的关键转变。到5岁9个月时,这种联合方法取得了显著改善:股骨和胫骨的畸形得到明显矫正,解决了胫骨扭转问题,并实现了肢体对线的改善,X线证据证实了这一点。该病例强调了矫形干预作为幼儿期XLH药物治疗关键且未得到充分重视的辅助手段的有效性。它提倡早期纳入矫形措施,以优化治疗效果并扩大肢体畸形的管理策略范围。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0ab5/11049417/cb443aed3e6a/children-11-00487-g001.jpg

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