论文部分内容阅读
粘多糖病(MPS)是由遗传因子缺陷引起的疾病,粘多糖在人体组织内与蛋白质结合,由于粘多糖代谢障碍,以致在软骨基膜、肌腱、血管、心瓣膜、脑膜、肌肉、角膜等结缔组织中堆积着粘多糖的颗粒,造成骨骼、内脏和智力诸方面广泛的发育不全.现将诊断为粘多糖Ⅳ型病例报告如下.女性,13岁.因身材矮小伴骨畸形就诊,3岁前发育未见明显异常,此后身高增长缓慢且逐渐出
Mucopolysaccharidoses (MPS) are diseases caused by genetic defects. Mucopolysaccharides bind to proteins in human tissues. Due to dysmetabolism of mucopolysaccharides, mucosal membranes, tendons, blood vessels, heart valves, meninges, muscles, cornea, etc. Connective tissue accumulation of mucopolysaccharide particles, resulting in extensive skeletal, visceral and intellectual hypoplasia are now diagnosed as mucopolysaccharide type Ⅳ cases are as follows. Female, 13 years old due to short stature with bone malformations, 3 years old No significant abnormalities in pre-development, after which height growth slowly and gradually out