CAJ | 학술논문

目的：探讨α－Sarcoglycanopathy的临床和病理学特征。方法回顾性分析2例α－Sarcoglycano－pathy患者的临床资料。结果本组2例患者均表现为近端肌肉无力，进行性加重。肌肉活检均可见肌间结缔组织及脂肪组织增生，肌纤维萎缩，偶见肌纤维变性、坏死和吞噬现象，未见炎细胞浸润；免疫组化染色示抗α－Sarcoglycan蛋白完全缺失，抗β、γ、δ－sacogiycan蛋白和抗dystrophin蛋白部分缺失。结论α－Sarcoglycanop－athy临床表现较其他类型肌营养不良无特异性，病理学特征为免疫组化染色示抗α－Sarcoglycan 蛋白完全缺失。
목적：탐토α－Sarcoglycanopathy적림상화병이학특정。방법회고성분석2례α－Sarcoglycano－pathy환자적림상자료。결과본조2례환자균표현위근단기육무력，진행성가중。기육활검균가견기간결체조직급지방조직증생，기섬유위축，우견기섬유변성、배사화탄서현상，미견염세포침윤；면역조화염색시항α－Sarcoglycan단백완전결실，항β、γ、δ－sacogiycan단백화항dystrophin단백부분결실。결론α－Sarcoglycanop－athy림상표현교기타류형기영양불량무특이성，병이학특정위면역조화염색시항α－Sarcoglycan 단백완전결실。
Objective To observe the clinical and pathological features ofα-Sarcoglycanopathy.Methods The clinical data of 2 α-Sarcoglycanopathy patients were analyzed retrospectively.Results The 2 patients were both performed as proximal muscle weakness, and became progressively sever.Muscle biopsy showed connective tissue and adipose tissue hyperplasia, muscle fiber atrophy, occasional muscle fibers degeneration, necrosis and consuming phenomenon, but no inflammatory cells infiltrated.Immunohistochemical staining showed antiα-Sarcoglycan protein completely missed, anti β、γ、δ-sacogiycan protein and anti dystrophin protein partly missed.Conclusions There is no special clinial features in α-Sarcoglycanopathy compared to other types of muscular dystrophy.The pathological features of α-Sarcoglycanopathy is immunohistochemical staining with anti α-Sarcoglycan protein completely missing.