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[杜兴氏与贝克氏肌肉营养不良症的早期鉴别:138例患者的临床、实验室、电生理、组织化学及免疫组织化学研究]

[Early differentiation between Duchenne and Becker muscular dystrophy: clinical, laboratory, electrophysiology, histochemical, and immunohistochemical study of 138 cases].

作者信息

Werneck L C, Ferraz L E, Scola R H

机构信息

Departamento de Clínica Médica, Universidade Federal do Paraná (UFPR), Curitiba, Brasil.

出版信息

Arq Neuropsiquiatr. 1992 Dec;50(4):468-77. doi: 10.1590/s0004-282x1992000400009.

DOI:10.1590/s0004-282x1992000400009
PMID:1309151
Abstract

194 clinical, laboratory, electrophysiologic, histological, histochemical and immunohistochemical parameters were studied through statistical analysis in 112 cases of Duchenne muscular dystrophy (DMD) and in 26 cases of Becker muscular dystrophy (BMD). It was found a significant statistical difference (p < 0.05) between the two groups concerning the age of evaluation, beginning of symptoms, difficulty in walking, running, climbing and going downstairs, frequent falling down, support to walk, localized muscle pain, stopping climb stairs, and inability to walk. Muscle biopsy showed statistically significant (p < 0.05) differences between the two groups regarding the intensity of connective tissue and focal adipose tissue proliferation, presence of diffuse rounded atrophic and angulated fibers, diffuse hypertrophic and splitting fibers. There were also differences regarding excessive internal fibers nuclei, hypertrophic types 1 and 2 fibers, angulated atrophic fibers and focal increasing in the NADH-TR, angulated atrophic fibers in non-specific esterase, and accumulated NBT in the periphery of fibers in succinic dehidrogenase. Isolatedly muscle biopsy gave the correct diagnosis in 52.7% of DMD cases and in 69.2% of BMD cases. Dystrophin detection by immunofluorescence (60 cases) showed: absence in 87.0% of fibers in DMD cases, and sarcolemmal membrane discontinuites in all BMD cases. The muscle biopsy diagnosis had an agreement with the dystrophin results in 82.6% of DMD cases and 71.4% of BMD cases.

摘要

通过统计分析研究了112例杜氏肌营养不良症(DMD)患者和26例贝克肌营养不良症(BMD)患者的194项临床、实验室、电生理、组织学、组织化学和免疫组化参数。发现两组在评估年龄、症状开始时间、行走、跑步、攀爬和下楼困难、频繁跌倒、行走支撑、局部肌肉疼痛、停止爬楼梯以及无法行走方面存在显著统计学差异(p < 0.05)。肌肉活检显示,两组在结缔组织和局灶性脂肪组织增殖强度、弥漫性圆形萎缩和角状纤维的存在、弥漫性肥大和分裂纤维方面存在统计学显著差异(p < 0.05)。在肌纤维内部核过多、1型和2型肥大纤维、角状萎缩纤维以及NADH - TR局灶性增加、非特异性酯酶中的角状萎缩纤维和琥珀酸脱氢酶中纤维周边NBT积累方面也存在差异。单独的肌肉活检在52.7%的DMD病例和69.2%的BMD病例中给出了正确诊断。通过免疫荧光检测肌营养不良蛋白(60例)显示:DMD病例中87.0%的纤维缺乏,所有BMD病例中肌膜连续性中断。肌肉活检诊断与肌营养不良蛋白检测结果在82.6%的DMD病例和71.4%的BMD病例中一致。

相似文献

1
[Early differentiation between Duchenne and Becker muscular dystrophy: clinical, laboratory, electrophysiology, histochemical, and immunohistochemical study of 138 cases].[杜兴氏与贝克氏肌肉营养不良症的早期鉴别:138例患者的临床、实验室、电生理、组织化学及免疫组织化学研究]
Arq Neuropsiquiatr. 1992 Dec;50(4):468-77. doi: 10.1590/s0004-282x1992000400009.
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Arq Neuropsiquiatr. 1990 Dec;48(4):454-64. doi: 10.1590/s0004-282x1990000400009.
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