黏脂贮积症Ⅱ型α/β和Ⅲ型α/β家系的溶酶体酶学分析  

Lysosomal enzyme analysis of mucolipidosis typeⅡα/βand typeⅢα/βin two Chinese pedigrees

作　　者：何甜甜 陈静[1] 刘珊玲[1] 王和[1] 张雪梅[1] He Tiantian;Chen Jing;Liu Shanling;Wang He;Zhang Xuemei(Department of Medical Genetics&Prenatal Diagnosis Center,Key Laboratory of Birth Defects and Related Diseases of Women and Children,Ministry of Education,West China Second University Hospital,Sichuan University,Chengdu,Sichuan 610041,China)

机构地区：[1]四川大学华西第二医院医学遗传科/产前诊断中心,出生缺陷与相关妇儿疾病教育部重点实验室,成都610041

出　　处：《中华医学遗传学杂志》2022年第8期829-835,共7页Chinese Journal of Medical Genetics

基　　金：四川省科技厅项目(2017SZ0111);四川大学华西第二医院新芽基金(KX240)。

摘　　要：目的分析总结黏脂贮积症(mucolipidosis,ML)Ⅱ型α/β和Ⅲ型α/β溶酶体酶酶学检测的特点,为选择酶学检测指标提供依据。方法检测两例确诊为MLⅡ型α/β和Ⅲ型α/β患者及10例健康个体血浆及白细胞中的多种溶酶体酶活性,比较患者与健康个体的差异;分别以"mucolipidosis"及"黏脂贮积症"为关键词,检索PubMed、CNKI、万方数据库,分析总结已报道的MLⅡ型α/β和Ⅲ型α/β的酶学检测结果。结果两例患儿血浆中多种溶酶体酶活性与健康个体相比均明显增高,程度由高至低分别为:芳基硫酸酯酶A(arylsulphatase A,ASA)和α-L-艾杜糖醛酸酶(α-iduronidase,IDUA)(20倍以上)、β-葡萄糖醛酸酶(β-glucuronidase,GUSB)(10倍以上)、β-D半乳糖苷酶(β-galactosidase-1,GLB1)和α-半乳糖苷酶(α-galactosidase A,GLA)(5倍以上)、α-N-乙酰葡萄糖胺酶(α-N-acetylglucosaminidase,NAGLU)(2倍),葡萄糖脑苷酯酶(glucocerebrosidase,GBA)(无明显变化)。两例患儿白细胞中多种溶酶体酶的活性与健康个体相比无差异,均在正常范围。筛选出22篇文献,共报道了15个溶酶体酶学指标,血浆中升高最明显的是总己糖胺酶(hexosaminidase A and B,Hex A+B)(平均升高24.4倍)和α-甘露糖苷酶(α-mannosidase,α-man)(24.7倍),其次是ASA(22.4倍),GUSB为18.8倍;选用较多的指标分别是Hex A+B(12篇)、α-man(11篇)和GUSB(10篇)。结论溶酶体酶学分析是MLⅡ型α/β和Ⅲ型α/β不可或缺的辅助诊断手段,通过对两例患儿的血浆酶学的分析和文献复习,推荐选用ASA、GUSB、Hex A+B和α-man为二者的血浆溶酶体酶学分析指标。Objective To analyze the characteristics of lysosomal enzymes in mucolipidosis(ML)typeⅡα/βand typeⅢα/βfor the choice of enzyme evaluating indicators.Methods Multiple lysosomal enzymes includingα-iduronidase(IDUA),α-N-acetylglucosaminidase(NAGLU),β-galactosidase-1(GLB1),β-glucuronidase(GUSB),α-galactosidase A(GLA),glucocerebrosidase(GBA)and arylsulphatase A(ASA)in plasma and leukocyte of two Chinese pedigrees with ML typeⅡα/βand typeⅢα/βand healthy controls were determined.Previous publications on ML typeⅡα/βand typeⅢα/βduring the last five years were retrieved from PubMed,CNKI and WanFang databases by using"mucolipidosis"as key word.Results The activities of several lysosomal enzymes were increased in the plasma of both patients:ASA,IDUA(20-fold)>GUSB(10-fold)>GLB1,GLA(5-fold)>NAGLU(2-fold),whilst there was no significant change in GBA.The activities of several lysosomal enzymes in the leukocyte of the two patients were normal.15 lysosomal enzymes have been used in 22 previous studies,the most frequently used were hexosaminidase A and B(Hex A+B)(12 papers),α-mannosidase(α-man)(11 papers)and GUSB(10 papers).The degree of Hex A+B andα-man elevation was most obvious(24.4-fold and 24.7-fold on average respectively),followed by ASA(22.4-fold on average),GUSB is 18.8-fold on average.Conclusion Based on the lysosomal enzyme analysis of the two cases and literature review,ASA,GUSB,Hex A+B andα-man are recommended as the evaluating indicators for lysosomal enzyme analysis of ML typeⅡα/βand typeⅢα/β.

关 键 词：黏脂贮积症 溶酶体酶酶学分析 血浆 检测指标 

分 类 号：R725[医药卫生—儿科]