CAJ | 학술논문

低血磷性佝偻病(HR)是一种由于肾脏对磷的重吸收障碍而导致骨矿化障碍的疾病.根据不同的突变染色体,HR可分为X染色体遗传性HR及常染色体遗传性HR,而根据各突变位点及类型不同可分为不同的亚型.通过对HR各亚型的基因检测(如X染色体上与内肽酶同源的磷调节基因,成纤维细胞生长因子基因以及牙本质基质蛋白基因等)以及对分子机制的探索,有助于进一步了解其发病机制以及诊疗方法.
저혈린성구루병(HR)시일충유우신장대린적중흡수장애이도치골광화장애적질병.근거불동적돌변염색체,HR가분위X염색체유전성HR급상염색체유전성HR,이근거각돌변위점급류형불동가분위불동적아형.통과대HR각아형적기인검측(여X염색체상여내태매동원적린조절기인,성섬유세포생장인자기인이급아본질기질단백기인등)이급대분자궤제적탐색,유조우진일보료해기발병궤제이급진료방법.
Hypophosphatemic rickets(HR) is a bone mineralization disorder caused by a defect in the renal handling of phosphorus.Depending on the mutant sites,HR is divided into X chromosome-linked HR and autosomal-linked HR.Based on varied mutation points,HR can be further divided into different subtypes.Exploring the genetic linkage(such as phosphate regulating gene with homologies to endopeptidase on X chromosome,fibroblast growth factor,dentin matrix protein and so on) and molecular mechanism of HR,will be helpful in understanding the pathogenesis and treatment of HR.