糖原累积性肌病的临床和病理学特点

Clinical and pathological analysis of muscle glycogen storage disease patients

目的：探讨糖原累积性肌病（ MGSD）患者的临床及病理特点。方法采用开放式肌肉组织活检术及肌肉酶组织化学染色方法观察29例MGSD患者的病理特点，并收集患者的一般资料、临床症状及体征、血清肌酶及EMG等临床资料进行归纳和总结。结果本组MGSD检出率为1．88％（29／1540）。29例MGSD患者中男19例，女10例。起病年龄1～67．5岁，中位数为13岁。病程3个月～41年，中位数为7年。主要的首发症状为肢体无力（65．52％）、不耐受疲劳（24．14％）和活性耐力差伴反复呼吸困难（3．45％），主要临床表现为肢体无力（96．55％）、颈肌无力（37．93％）和呼吸肌无力（13．79％）等。27例患者行肌酸激酶（CK）检查，中位数为1266．00 U／L，其中CK正常者2例（7．41％），CK升高者25例（92．59％），且以轻-中度升高为主。29例患者EMG检查均有异常，其中86．20％的患者EMG表现为肌源性损害或肌源性损害合并肌强直电位。 HE染色29例患者均出现特征性的空泡样变性坏死肌纤维，空泡大小不一、形态多样，且20例空泡样变纤维中出现嗜碱性颗粒。 PAS染色阳性。结论 MGSD患者发病年龄及病程波动范围大，患者均以进行性肢体无力为主要表现，部分患者有颈部肌肉及呼吸肌受累。肌肉酶组织化学染色有明显肌纤维空泡样坏死变性，有助于明确MGSD的诊断。

Objective To analyze the clinical and pathological features of patients with muscle glycogen storage disease（MGSD）.Methods Summarize the pathological features of the 29 MGSD patients through muscle biopsies and histochemical stainings , and collect and analyse their demographic data , clinical symptoms and signs , serum enzymes and EMG results.Results The proportion of MGSD in suspected myopathies was 1.88%（29/154） in this research.Of the 29 MGSD patients, there were 19 male and 10 female.Patients＇onset ages were from 1 year old to 67.5 years old, with a median onset age of 13 years old.Clinical course ranged from 4 months to 41 years, with a median of 7 years.The main initial symptoms were limb weakness （65.52%）, intolerance of exercises （24.14%） and exercise intolerance with reccurent dyspnea （3.45%）.Main clinical manifestations were weakness of limbs （96.55%）, cervical muscle weakness （37.93%）, respiratory muscle weaknes（13.79%）and so on.Twenty-seven patients had their serum creatine kinase （ CK） examined, with a median of 1266.00 U/L.Two （7.41%） of the 27 patients had normal CK levels , and 25（92.59%） of them had elevated CK levels while most of the CK levels were mild or moderate elavated .All of the 29 patients had abnormal EMG results , and 86.20%of them showed myogenic damage or myogenic damage combined with myotonic potentials .The muscle HE staining showed muscle fibers were characteristicly degenerated or necrotic in vacuoles of various sizes and types in all 29 cases, with blue particles appeared in the vaculoes in 20 cases.And PAS stainings were positive .Conclusions There are significient individual variations in onset age and clinical course of MGSD .Progressive limb weakness is the predominant symptom for all patients , and some patients can suffer from respiratory muscle tiredness and cevical muscle weakness .Muscle biopsy shows muscle fibers were distinctly degenerated or necrotic in vaculoes , which can help with the definite diagnosis of MGSD .