CAJ | 학술논문

遗传性骨病种类繁多,临床上相对常见的也有二、三十种.这些骨病症状、体征相似,难以鉴别,分子诊断时间长、费用高,若无法进行有针对性的基因检测或蛋白/酶功能鉴定,势必造成时间和经费的损失.本文根据十多年来对二十多种遗传性骨病、代谢病进行分子诊断和早期防治工作所积累的一些诊防经验,对各病的快速鉴别要领进行了比较全面的分析总结,以期对临床诊、防、治工作提供一些有益的启示.
유전성골병충류번다,림상상상대상견적야유이、삼십충.저사골병증상、체정상사,난이감별,분자진단시간장、비용고,약무법진행유침대성적기인검측혹단백/매공능감정,세필조성시간화경비적손실.본문근거십다년래대이십다충유전성골병、대사병진행분자진단화조기방치공작소적루적일사진방경험,대각병적쾌속감별요령진행료비교전면적분석총결,이기대림상진、방、치공작제공일사유익적계시.
@@@@The species of genetic skeletal disorders were very wide, and the relatively common species have twenty to thirty in the clinical. These skeletal disorders have similar signs and symptoms, difficult to identify, and molecular diagnosis would be long and costly. If targeted gene detection or protein/enzyme function identification are incapable to be poformed, which would be cause the loss of time and money. According to the experience of molecular diagnosis and treatment of twenty kinds of genetic skeletal disorders and metabolic disease in the past decade, we make a relatively comprehensive analysis to rapid identification for each disease in this paper, which was helpful for providing some beneficial enlightenment to clinical diagnosis, prevention and treatment.