| 杜华,
，钟延丰
，郑丹枫
，师永红,
，徐晓艳,
，翁立新,
，马秀梅,
，于慧玲,
，师迎旭.5例晚发型糖原贮积症Ⅱ型患者的临床分析[J].神经损伤功能重建,2020,15(3):138-141 |
| 5例晚发型糖原贮积症Ⅱ型患者的临床分析 |
| Clinical Analysis of 5 Cases of Late-Onset Glycogen Storage Disease Type II |
| |
| DOI： |
| 中文关键词: 糖原贮积症 临床 病理 肌肉活检 |
| 英文关键词: glycogen accumulation disease clinic pathology muscle biopsy |
| 基金项目:内蒙古自治区高
等学校青年科技
英才支持计划资
助（No.NJYT-18-B
18）；
内蒙古自治区自
然科学基金（No.2
019LH08032）；
内蒙古医科大学
科 技 百 万 工 程
（No.YKD2017KJB
W004）；
内蒙古医科大学
附属医院一般科
研项目（No.NYFY
YB040） |
|
| 摘要点击次数: 2938 |
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| 中文摘要: |
| 目的：探讨糖原贮积症的临床病理特征。方法：对5例晚发型糖原贮积症患者的临床、病理资料进行
回顾性分析，并进行病理形态学、特殊染色及电镜观察。结果：本组5例患者体格检查显示四肢远近端、躯
体肌肉均匀萎缩；四肢肌张力不同程度降低，颈肌力量稍差，Gewer征阳性。实验室检查血清肌酸激酶（CK）
均有不同程度升高。肌电图显示多呈肌源性损害表现，其中3例伴强直样放电及飞机俯冲声。光镜下肌纤
维束膜基本完整，染色不均，肌原纤维结构破坏，肌浆内空泡形成，部分肌纤维内见大量颗粒状物质堆积，
HE染色表现为颗粒蓝染，GMR红染，PAS深染，NADH-TR染色显示脱失。电镜观察部分肌原纤维间见糖
原颗粒聚集，聚集的糖原颗粒部分游离分散，但大多形成膜包绕的空腔结构。结论：糖原贮积症Ⅱ型是一种
罕见的进展性溶酶体贮积病，由位于第17号染色体上的酸性α⁃葡糖苷酶（GAA）基因突变所致，呈常染色体
隐性遗传。晚发型GSDⅡ型患者临床多隐匿起病，对于疑似患者，可根据病理形态学主要受累肌肉内糖原
沉积并结合电镜观察及临床表现而得出，确诊及分型则需依靠 GAA 酶的测定或缺陷酶热点基因突变分
析。人重组α⁃葡糖苷酶治疗该病，使患者预后显著改善。 |
| 英文摘要: |
| To investigate the clinicopathological features of glycogen storage disease. Methods:
The clinical and pathological data of 5 cases of late-onset glycogen storage disease were retrospectively analyzed, and the pathological morphology, special staining, and electron microscopy were observed. Results:
Physical examination showed that the distal and proximal extremities and the muscles of the body atrophied
evenly, muscular tension of the extremities decreased to varying degrees, strength of the cervical muscles was
slightly poor, and Gewer sign was positive. Serum creatine kinase (CK) levels were increased in laboratory tests.
EMG showed myogenic lesions in most cases, including 3 cases accompanied by tonic discharges and aircraft
dive sounds. Under light microscopy, the fascicular membranes of muscle fibers were basically intact; there was
uneven staining, the structure of myofibrils was damaged, vacuoles were formed in the sarcoplasm, and a large
number of granular substances were accumulated in some muscle fibers. HE showed blue granular staining, and
GMR red staining, PAS deep staining, and NADH-TR staining showed color loss. Electron microscopy showed
that glycogen granules were aggregated in some myofibrils and partially dispersed, but most of them formed a
membrane-enclosed cavity structure. Conclusion: Glycogen storage disease type II is a rare progressive lysosomal storage disease that exhibits autosomal recessive inheritance due to mutation of the acid alpha-glucosidase
(GAA) gene on chromosome 17. Late-onset GSD type II patients usually have insidious onset. For suspected patients, diagnosis and classification can be based on the glycogen deposition in the muscles most affected by
pathomorphology combined with the observation of electron microscopy and clinical manifestations. The diagnosis and classification of late-onset GSD type II patients depend on determination of the GAA enzyme or mutation
analysis of hot spot genes of deficient enzymes. Recombinant human alpha glucuronidase is used in treatment of
the disease, and the prognosis of patients is significantly improved. |
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