骨硬化症的诊疗现状

Diagnosis and treatment of osteosclerosis

骨硬化症是一种罕见的遗传代谢性骨病,临床表现呈显著异质性,从无症状到表现为致命性临床特征。骨硬化症的诊断主要根据临床表现和影像学诊断相结合,基因检测有助于分型和制定个体化治疗方案。造血干细胞治疗是部分类型骨硬化症的根治方法,但可能出现致死性并发症。基因治疗有望作为造血干细胞治疗的根治疗法,目前仅限于临床前研究。本文将结合近年来国内外研究,对骨硬化症的诊治现状进行总结,以供参考。

Osteopetrosis is a rare hereditary metabolic bone disease with significant clinical heterogeneity,and the clinical feature of osteopetrosis ranges from asymptomatic to fatal.The diagnosis of osteopetrosis is mainly decided according to the combination of clinical manifestations and imaging examinations.In addition,genetic testing is helpful for the confirming of the classification of osteopetrosis and more individualized treatment strageties for specified patient.Hematopoietic stem cell therapy(HSCT)is the radical cure for part of osteopetrosis,while fatal complications may occur.Gene therapy is a promising replacement therapy for HSCT,but it is limited to preclinical research currently.This article summarizes the status of diagnosis and treatment of osteopetrosis for reference by combining the domestic and foreign research in recent years.