CAJ | 학술논문

目的：总结肌糖原累积病（MGSD）临床与活检骨骼肌的病理特点。方法：回顾性分析16例MGSD患者的临床和骨骼肌病理资料。结果：临床表现包括肌力下降、运动不耐受、肌痛、肌张力减低等，可合并多系统受累；血肌酸激酶不同程度升高；肌电图正常或呈肌源性/神经源性损害。活检骨骼肌病理分析：典型病理表现为细胞浆内散在不定形空泡和/或PAS染色空泡内糖原流失或蓄积；2例酸性磷酸酶活性增加；1例磷酸化酶活性缺失；电镜下可见大量糖原颗粒聚集，MGSDⅡA病患者可见双膜自噬泡、髓样小体、溶酶体聚集和糖原颗粒蓄积。结论：骨骼肌活检对MGSD诊断与鉴别诊断具有重要价值；细胞浆内糖原空泡、糖原蓄积是重要病理诊断依据，酸性磷酸酶、磷酸化酶特殊染色有助于分型诊断，指导致病基因测序；电镜下溶酶体髓磷脂样改变支持MGSDⅡA型诊断。
목적：총결기당원루적병（MGSD）림상여활검골격기적병리특점。방법：회고성분석16례MGSD환자적림상화골격기병리자료。결과：림상표현포괄기력하강、운동불내수、기통、기장력감저등，가합병다계통수루；혈기산격매불동정도승고；기전도정상혹정기원성/신경원성손해。활검골격기병리분석：전형병리표현위세포장내산재불정형공포화/혹PAS염색공포내당원류실혹축적；2례산성린산매활성증가；1례린산화매활성결실；전경하가견대량당원과립취집，MGSDⅡA병환자가견쌍막자서포、수양소체、용매체취집화당원과립축적。결론：골격기활검대MGSD진단여감별진단구유중요개치；세포장내당원공포、당원축적시중요병리진단의거，산성린산매、린산화매특수염색유조우분형진단，지도치병기인측서；전경하용매체수린지양개변지지MGSDⅡA형진단。
Objective:To summary the clinical and skeletal muscle biopsy pathological features of muscle glycogen storage disease. Methods:The clinical and pathological data of the 16 cases of muscle glycogen storage disease (MGSD) were retrospectively analyzed. Results: The clinical manifestations include muscle weakness, exercise intolerance, myalgia, and muscle tonus reducing which may be accompanied by multitude systems involvement. Serum creatine kinase was increased at varying degrees. Electromyography showed normal or myogenic or neurogenic damage. Typical pathology manifestation was unshaped vacuoles in the cytoplasm of muscle fibers , glycogen washed away or accumulated in the vacuoles in PAS staining. The activities of acid phosphatase were increased in two cases. The activity of phosphorylase was absent in one case. Many glycogens were accumulated under electron microscope. MGSDⅡA patients showed double membrane autophagy gathered vacuoles, myeloid bodies, lysosomes gathered and glycogen granules. Conclusion: Skeletal muscle biopsy pathology analysis plays an important role on diagnosis and differential diagnosis. Glycogen vacuoles and accumu-lation in the cytoplasm of muscle fibers are important pathology diagnosis evidence. Special staining such as acid phosphatase and phosphorylase is helpful in classification diagnosis and guiding causative gene sequencing. Lysosome myelin-like change supports MGSDⅡA disease diagnosis under electron microscope.