2例黏多糖贮积症Ⅲ型患者及家人临床相关指标的初步分析  

Preliminary analysis of clinically relevant indicators in two patients with mucolipidosis type Ⅲ and their family members

作　　者：黄耀平 夏西超 吴建勇[2] 崔娟[2] 张俊峰 刘洋 徐国昌[3] 胡庆甫[2] 王卿[2] 刘荣志[2] Huang Yaoping;Xia Xichao;Wu Jianyong;Cui Juan;Zhang Junfeng;Liu Yang;Xu Guochang;Hu Qingfu;Wang Qing;Liu Rongzhi(Medical College of Pingdingshan University, Pingdingshan 467000, Henan, China;Basic Medicine College of Nanyang Medical University, Nanyang 473041, Henan, China;Zhang Zhongjing Medical College, Nanyang Institute of Science and Technology, Nanyang 473004,Henan, China)

机构地区：[1]平顶山学院医学院,河南平顶山467000 [2]南阳医学高等专科学校基础医学院,河南南阳473041 [3]南阳理工学院张仲景国医学院,河南南阳473004

出　　处：《中国中西医结合急救杂志》2018年第6期662-664,共3页Chinese Journal of Integrated Traditional and Western Medicine in Intensive and Critical Care

基　　金：国家自然科学基金(31271285);河南省教育厅自然科学研究计划项目(12B310010).

摘　　要：目的观察2例黏多糖贮积症(MPS)Ⅲ型患者的临床特征。方法以具有MPSⅢ型症状的姐弟2人及家族其他7名成员为研究对象,分析其手骨影像学、血液指标〔血糖、胆固醇、三酰甘油(TG)、总蛋白(TP)、白蛋白(Alb)〕和体成分的改变。结果除2例患者外,家族其他7名成员骨骼形态、血液指标和体成分均处于正常状态。2例MPSⅢ型患者双手指骨间隙明显增宽,其中拇指表现得更为明显;双手远节指骨远端变尖,弯曲呈“鸡爪状”;掌骨和腕骨远端干骺端明显膨大;手腕处舟骨、月骨、三角骨、豌豆骨、大多角骨、小多角骨排列松散;尺骨和桡骨远端明显膨大。与健康人比较,患者1和患者2血液TG水平明显减少(分别减少了57.14%和41.07%);体质量指数(BMI)、总脂肪量、内脏脂肪量明显减少(BMI分别减少了26.81%和14.55%、总脂肪量分别减少了38.12%和44.95%、内脏脂肪量分别减少了62.25%和67.74%)。结论生化指标、影像学特征和体成分研究为深入认识MPSⅢ型临床症状提供理论参考。Objective To observe the clinical characteristics of 2 patients with mucolipidosis type Ⅲ. Methods Two sibling patients (a sister and a brother) with mucolipidosis type Ⅲ symptoms and other family members were the research objects, and the changes of their features of hand bone imaging, blood indexes [blood glucose, cholesterol, triacylglycerol (TG), total protein (TP), albumin (Alb)] and body composition were analyzed. Results Except the 2 patients, the bone morphology, blood indexes and body compositions in other 7 family members were under normal conditions. The phalanx intervals of both hands in 2 patients with mucolipidosis type Ⅲ were widened significantly, among them the thumb manifestation was more obvious; the distal segments of phalanxes in both hands became pointed and curved presenting a "claw-like hand" deformity; the metacarpal and distal carpal metaphysis were obviously enlarged, and scaphoid, lunate, trianglar, orbicular, and trapezium and trapezoid bones were loosely arranged at the wrist; the distal ends of ulna and radius were markedly enlarged. Compared to healthy people, the triglyceride levels of serum in the 2 patients were obviously reduced (the percentage of reduction: 57.14% and 41.07% respectively); body mass indexes (BMI), total fat and visceral fat were significantly lowered (BMI reduction percentage: 26.81% and 14.55%, total fat reduction percentage: 38.12% and 44.95%, visceral fat reduction percentage: 62.25% and 67.74%, respectively) in the two patients. Conclusion The purpose of studying the biochemistry indexes, imaging characteristics and body compositions is to more deeply understand the clinical symptoms and signs of the 2 sibling patients with mucolipidosis type Ⅲ in a family to provide a theoretical reference.

关 键 词：黏多糖贮积症Ⅲ型 手骨 血液指标 体成分 

分 类 号：R318.11[医药卫生—生物医学工程]