遗传性代谢性骨病治疗进展  

Progress in the treatment of hereditary metabolic bone diseases

作　　者：程博文 徐潮[1] CHENG Bo-wen;XU Chao(Endocrinology Department of Shandong Provincial Hospital,Shandong First Medical University Affiliated Provincial Hospital,Jinan 250022,China)

机构地区：[1]山东大学附属省立医院、山东第一医科大学附属省立医院、山东省立医院内分泌科,山东济南250022

出　　处：《中国实用内科杂志》2024年第11期896-900,共5页Chinese Journal of Practical Internal Medicine

摘　　要：遗传性代谢性骨病是一类以骨骼代谢稳态异常伴或不伴有游离钙、磷酸盐、维生素D代谢物及其他相关标志物异常为特征的复杂多样的疾病。近年来随着基因测序技术的不断发展,遗传性代谢性骨病的检出率逐年增高,已确诊患者根据基因突变类型还可划分不同亚型,从而制定更为精准的治疗方案。文章旨在介绍临床较为常见的遗传性代谢性骨病现阶段的治疗进展,以期在临床工作中能够在已识别此类疾病后,为患者提供更有效的治疗方案,达到缓解病情,改善预后的目的。Hereditary metabolic bone disease is a complex and diverse disease characterized by abnormal bone metabolic homeostasis with or without abnormalities of free calcium,phosphate,vitamin D metabolites and other related markers.In recent years,with the continuous development of genome sequencing technology,the detection rate of hereditary metabolic bone disease has increased year by year.According to the type of gene mutations,patients can be divided into tifferent subtypes so that more precise treatment plans are made.This article aims to introduce the current treatment progress in hereditary metabolic bone diseases,which are more common in clinical practice,in order to provide patients with more effective treatment programs after identifying such diseases in clinical work,achievings the treatment goal of alleviating the condition and improving the prognosis.

关 键 词：遗传性代谢性骨病 低磷佝偻病 维生素D依赖性佝偻病 成骨不全 干骺端发育不良 

分 类 号：R58[医药卫生—内分泌]