摘要
先天性卵巢发育不良综合征是一种罕见的女性遗传病,其临床特点包括身材矮小和原发性卵巢功能不全,并可能发生全身多系统并发症。其基本治疗主要使用重组人生长激素及雌激素以改善身高、促进第二性征发育,持续时间较长,花费较大,对患者及其家属造成了一定的经济和心理负担。个体化治疗在药物基因组学的基础上对患者及其病情进行精准评估,减少医源性损失的同时也提高了治疗效果。
Congenital ovarian dysplasia syndrome is a feminine genetic disease which is rarely seen.Its clinical manifestations include short stature and primary ovarian insufficiency,in addition of which could cause multi-systema-tic complications.According to its therapeutic methods,recombinant human growth hormone and Estrogen are normally used to improve stature and the development of gonad.However,these methods are long-lasting and with great expense,which may result in economic and emotional burdens on patients and their family.On the contrary,individual therapies has a rather precise pharmacogenetical evaluation on patients and their disease,which could effectively decrease iatrogenic loss while enhancing the curative effect.
作者
张歆竹
张知新
Zhang Xinzhu;Zhang Zhixin(Institute of Clinical Medical Science,Beijing University of Chinese Medicine,Beijing 100029,China)
出处
《中华实用儿科临床杂志》
CSCD
北大核心
2019年第20期1591-1594,共4页
Chinese Journal of Applied Clinical Pediatrics
关键词
先天性卵巢发育不良
个体化治疗
重组人生长激素
药物基因组学
Congenital ovarian dysplasia
Individualized treatment
Recombinant human growth hormone
Pharmacogenomics
