摘要
目的探讨黏多糖病(MPS)疾病谱及其临床特点。方法对2009年1月至2011年12月75例高度疑似MPS患儿同时进行尿黏多糖(GAG)定量和电泳分析以及7种MPS酶学分析。采用荧光分析法分别检测白细胞α-L-艾杜糖酶、艾杜糖-2-硫酸酯酶、α-N-乙酰氨基葡糖苷酶、半乳糖胺-6-硫酸酯酶、β-半乳糖苷酶、芳基硫酸酯酶B及β-葡萄糖醛酸酶活性。结果根据临床、放射学及酶学检查确诊MPS 52例,年龄4.0±2.2岁,其中I型5例(10%),Ⅱ型20例(38%),ⅣA型20例(38%),Ⅵ型6例(12%),Ⅶ型1例(2%),未发现ⅢB、ⅣB型患儿。除2例ⅣA型患儿外,其余50例MPS患儿尿GAG/Gr比值均较同龄儿增高。尿GAG定量增高者均确诊为MPS。绝大多数患儿于生后1～2岁起病,常伴有疝、心脏瓣膜病。Ⅰ、Ⅱ、Ⅵ型患儿表现面容丑陋、皮肤粗糙、矮小、关节僵硬及活动受限,ⅣA型主要表现为矮小、骨骼畸形及关节松弛。结论 MPSⅡ型和ⅣA型是MPS最常见类型,其次是Ⅵ型及Ⅰ型。MPS患儿以特殊外貌为临床特点,包括面容丑陋、皮肤粗糙、矮小、骨骼畸形等。尿GAG定量测定可作为一种简便、快速、可靠的MPS筛查方法在临床上推广应用。
Objective To explore the incidence of various types of mucopolysaccharidosis （MPS） and their clinical characteristics. Methods A total of 75 children highly suspected as having MPS underwent quantitative and electrophoretic analysis of urinary glycosaminoglycans （GAGs） and enzymatic analysis of seven types of MPS from January 2009 to December 2011. Fluorescence assay was used to measure the activities of ct-L-iduronidase, iduronate-2-sulfatase, ct-N-acetylglucosaminidase, galactosamine-6-sulfatase, β-galactosidase, arylsulfatase B and β-glueuronidase in the white blood cells. Results A total of 52 cases were confirmed with MPS based on clinical, radiological, and enzymatic examinations. The 52 cases, with a mean age of 4.0 ±2.2 years, included 5 cases of MPS I （ 10% ） , 20 cases of MPS.II （38%）, 20 cases ofMPS IVA （38%）, 6 cases of MPSVI （12%） and 1 case of MPSVII （2%）. NoMPSIV Bcases or MPS ⅢB cases were found. Compared with healthy children of the same age, the GAG/Cr ratio was significantly elevated in 50 confirmed cases of MPS （two MPS IVA cases having no increased ratio）. All children with increased urinary GAGs had a confirmed diagnosis of MPS. The age of onset was between 1 and 2 years after birth in most eases, and often complicated by hernia and valvular heart disease. Children with MPS I, MPS II, and MPS VI presented with ugly and unsmooth face, short stature, joint stiffness, and limitation of motion, while children with MPS IVA presented with short stature, skeletal dysplasia, and joint laxity. Conclusions Type IVA and type II are the most common in MPS cases, followed by type VI and type I. MPS children are characterized by special appearances including ugly and unsmooth facial appearance, short stature and skeletal dysplasia. Quantitative analysis of urinary GAG, as a simple, rapid, and reliable method, is recommended for screening of MPS.
出处
《中国当代儿科杂志》
CAS
CSCD
北大核心
2012年第7期510-514,共5页
Chinese Journal of Contemporary Pediatrics
基金
广东省自然科学基金(8451018005001798)
广东省科技计划项目(2011B061300086)
关键词
黏多糖病
酶测定
尿黏多糖儿童
Mucopolysaccharidosis
Enzymatic assay
Urinary glycosaminoglycans
Child
