中华儿科杂志
中華兒科雜誌
중화인과잡지
Chinese Journal of Pediatrics
2009年
8期
608-612
,共5页
王薇%魏珉%宋红梅%邱正庆%张为民%吴晓燕%卢超霞%祁俊明%景红%李凡
王薇%魏珉%宋紅梅%邱正慶%張為民%吳曉燕%盧超霞%祁俊明%景紅%李凡
왕미%위민%송홍매%구정경%장위민%오효연%로초하%기준명%경홍%리범
糖原贮积病Ⅲ型%诊断技术和方法%糖原脱支酶系统
糖原貯積病Ⅲ型%診斷技術和方法%糖原脫支酶繫統
당원저적병Ⅲ형%진단기술화방법%당원탈지매계통
Glycogen storage disease type Ⅲ%Diagnostic techniques and procedures%Glycogendebranching enzyme system
目的 在我国建立糖原累积症(GSD)ⅢA的酶学诊断方法,并测定中国人群的正常值范围.方法 肌肉标本来自正常对照组35例、GSD ⅢA组12例和其他肌病组9例.GSD ⅢA患者均发现明确的AGL基因致病突变.制备肌肉匀浆后,以淀粉葡萄糖苷酶以及磷酸化酶分别降解匀浆中的糖原,通过测定葡萄糖产量以明确糖原含量以及糖原形态;以极限糊精为底物,测定匀浆中的糖原脱支酶(GDE)活性.结果 (1)GSD ⅢA患者组的肌肉中糖原含量显著高于另外两组,葡萄糖-1-磷酸与总葡萄糖的比率(G1P/G)以及GDE活性均显著低于另外两组(P<0.01),其他肌病组与正常对照组三项指标的差异均无统计学意义.(2)正常值范围:肌肉中糖原含量0.31%～0.43%,G1P/G为22.37%～26.43%,GDE活性0.234～0.284 μmol/(g·min).(3)三项指标综合诊断GSD ⅢA的酶学诊断方法与基因诊断方法诊断效果相同,并且两种方法的敏感性均为91.7%,特异性均为100.0%.结论 首次建立了GSD ⅢA的酶学诊断及糖原含量、糖原形态测定方法,确定了中国人群的正常值范围,可于临床推广应用.
目的 在我國建立糖原纍積癥(GSD)ⅢA的酶學診斷方法,併測定中國人群的正常值範圍.方法 肌肉標本來自正常對照組35例、GSD ⅢA組12例和其他肌病組9例.GSD ⅢA患者均髮現明確的AGL基因緻病突變.製備肌肉勻漿後,以澱粉葡萄糖苷酶以及燐痠化酶分彆降解勻漿中的糖原,通過測定葡萄糖產量以明確糖原含量以及糖原形態;以極限糊精為底物,測定勻漿中的糖原脫支酶(GDE)活性.結果 (1)GSD ⅢA患者組的肌肉中糖原含量顯著高于另外兩組,葡萄糖-1-燐痠與總葡萄糖的比率(G1P/G)以及GDE活性均顯著低于另外兩組(P<0.01),其他肌病組與正常對照組三項指標的差異均無統計學意義.(2)正常值範圍:肌肉中糖原含量0.31%～0.43%,G1P/G為22.37%～26.43%,GDE活性0.234～0.284 μmol/(g·min).(3)三項指標綜閤診斷GSD ⅢA的酶學診斷方法與基因診斷方法診斷效果相同,併且兩種方法的敏感性均為91.7%,特異性均為100.0%.結論 首次建立瞭GSD ⅢA的酶學診斷及糖原含量、糖原形態測定方法,確定瞭中國人群的正常值範圍,可于臨床推廣應用.
목적 재아국건립당원루적증(GSD)ⅢA적매학진단방법,병측정중국인군적정상치범위.방법 기육표본래자정상대조조35례、GSD ⅢA조12례화기타기병조9례.GSD ⅢA환자균발현명학적AGL기인치병돌변.제비기육균장후,이정분포도당감매이급린산화매분별강해균장중적당원,통과측정포도당산량이명학당원함량이급당원형태;이겁한호정위저물,측정균장중적당원탈지매(GDE)활성.결과 (1)GSD ⅢA환자조적기육중당원함량현저고우령외량조,포도당-1-린산여총포도당적비솔(G1P/G)이급GDE활성균현저저우령외량조(P<0.01),기타기병조여정상대조조삼항지표적차이균무통계학의의.(2)정상치범위:기육중당원함량0.31%～0.43%,G1P/G위22.37%～26.43%,GDE활성0.234～0.284 μmol/(g·min).(3)삼항지표종합진단GSD ⅢA적매학진단방법여기인진단방법진단효과상동,병차량충방법적민감성균위91.7%,특이성균위100.0%.결론 수차건립료GSD ⅢA적매학진단급당원함량、당원형태측정방법,학정료중국인군적정상치범위,가우림상추엄응용.
Objective Glycogen storage disease type Ⅲ(GSD Ⅲ) is an autosomal recessive disease caused by glycogen debranching enzyme (GDE) gene (AGL gene) mutation resulting in hepatomegaly, hypoglycemia, short stature and hyperlipidemia. GSD ⅢA, involves beth liver and muscle, and accounts for up to 80% of GSD Ⅲ. The definitive diagnosis depends on either mutation analysis or liver and muscle glycogen debranching enzyme activity tests. This study aimed to establish enzymologic diagnostic method for GSD ⅢA firstly in China by detecting muscular GDE activity, glycogen content and structure and to determine the normal range of muscular GDE activity, glycogen content and structure in Chinese children. Method Muscle samples were collected from normal controls (male 15, female 20; 12-78 years old), molecularly confirmed GSD ⅢA patients (male 8, female 4, 2-27 years old) and other myopathy patients (male 9, 2-19 years old). Glycogen in the muscle homogenate was degraded into glucose by amyloglucosidase and phosphorylase respectively. The glycogen content and structure were identified by glucose yield determination. The debranching enzyme activity was determined using limit dextrin as substrate. Independent samples Kruskal-Wallis H test, Nemenyi-Wilcoxson-Wilcox test, and Chi-square test were used for statistical analyses by SPSS 11.5. Result (1) GSD ⅢA patients' glycogen content were higher, but G1P/G ratio and GDE activity were lower than those of the other two groups (P<0.01). In all of the three parameters, there were no significant difference between normal controls and other myopathy patients. (2) The range of normal values: glycogen content 0.31%-0.43%, GIP/G ratio 22.37%-26.43%, GDE activity 0.234-0.284 μmol/(g. min). (3) Enzymologic diagnostic method had a power similar to that of gene analysis in diagnosis of GSD-Ⅲ A patients. The sensitivity and specificity of enzymologic diagnostic method and mutation detection were 91.7% and 100% respectively. Conclusion Enzymologie diagnostic method of GSD ⅢA was firstly established in China. The range of normal values was determined. This method could be used in diagnosing suspected GSD ⅢA patients in the clinic.
