低磷性佝偻病肢体畸形的研究进展△

Research progress of limb deformities secondary to hypophosphatemic rickets

摘要:

低磷性佝偻病是一组因肾脏磷丢失而引起低磷血症，导致骨骼矿化异常的罕见遗传性疾病。多个基因突变都可引起低磷性佝偻病发生，但即使是同一家系的患者，其临床表现及严重程度也可能不同，这对疾病的个体化诊疗有更高的要求。由于低磷性佝偻病较为罕见，患者因佝偻病症状就诊时，可能被误诊为营养性佝偻病，或不能及时接受符合循证医学的合理治疗。肢体畸形严重影响低磷性佝偻病患者生活质量，需要医生予以合适的治疗。药物是低磷性佝偻病治疗的基石，接受理想的药物治疗和医疗管理后，部分患者也可能出现进行性肢体畸形，这时手术将是解决问题的最终手段。药物治疗在矫形手术前后必不可少，通过周密的手术计划和严谨的手术技术，可以成功矫正低磷性佝偻病患者的复杂畸形。

Abstract:

Hypophosphatemic rickets is a kind of rare genetic diseases which manifests abnormal bone mineralization caused by hypo-phosphatemia due to renal phosphorus loss. Multiple gene mutations may lead to hypophosphatemic rickets. However, patients from the samefamily may have different clinical presentation and severity, which need we have to make individualized diagnosis and treatment. Limb defor-mities seriously affects the quality of life in the patients with hypophosphatemic rickets, which might be needed surgical treatment appropri-ately by orthopedists. Drug treatment is the cornerstone of the treatment of hypophosphatemic rickets, however, even if the most ideal drugscheme and medical management were accepted, limb deformities progress in some children or adults. For this scenario, surgical interven-tion will be the ultimate method to solve the problem. Drug therapy is essential before and after orthopedic surgery for hypophosphatemicrickets. Drug combines with careful surgical planning and rigorous surgical techniques can correct the complex deformity in patients with hy-pophosphatemic rickets successfully.