肌肉病患者56例重复肌肉活体组织检查分析

Pathological analysis of 56 patients with a redo-muscle biopsy

目的 了解重复肌肉活体组织检查（活检）技术对复杂疑难肌肉病的诊断价值。方法 采用归纳分析法研究了2004年12月至2015年6月在解放军总医院就诊的56例重复肌肉活检患者的人口学资料、肌电图、血清肌酶及病理特点。结果 56例患者中男性39例，女性17例，年龄13～63岁，平均年龄（35.07±15.81）岁。49例患者肌电图检查提示41例为肌源性损害，4例为非肌源性损害，4例正常。53例做了血清肌酸激酶测定，结果15例正常，38例升高[883.50 （490.08，1 577.25）U/L]。53例做血清乳酸脱氢酶测定的患者中，22例正常，31例升高[（492.72±277.00） U/L]。重复肌肉活检间隔时间为8 d～20年，中位时间1.00（0.35，2.90）年；其中有8例在1个月内重复肌肉活检。重复肌肉活检结果出现3种情况：第一种情况为前后结果一致，占19.6%（11/56），其诊断的肌病有肌营养不良、脂质沉积性肌病、糖原沉积性肌病、包涵体肌病、多发性肌炎、皮肌炎、坏死性肌病、炎性肌病和肌源性损害；第二种情况为第一次肌肉活检未能明确诊断，第二次肌肉活检明确诊断，占57.1%（32/56），此组的第一次结果主要为非特异性损害、多发性肌炎、线粒体肌病、肌营养不良、肌原纤维病、肌膜肌炎，但经第二次肌肉活检及相关检查或治疗后纠正其诊断并明确为其他肌病，如肌营养不良、脂质沉积性肌病、糖原沉积性肌病、线粒体肌病、线粒体肌病伴脂质沉积性肌病、包涵体肌病、炎性肌病、管聚集性肌病、免疫性肌病、杆状体肌病、坏死性肌病及神经源性肌萎缩；第三种情况为前后两次肌肉活检均不能明确诊断，待继续观察中，占23.2%（13/56）。结论 重复肌肉活检对部分复杂疑难肌肉病患者是必须的，但并非全部都可获得明确诊断，因此，须严格选择重复肌肉活检病例。

Objective To investigate the diagnostic efficacy of a redo-muscle biopsy in patients with myopathy. Methods The demographic data, electromyography, serum muscle enzyme levels, and pathological characteristics were prospectively analyzed from a redo-muscle biopsy which was undergone in 56 patients with myopathy in the Chinese People＇s Liberation Army General Hospital between December 2004 and June 2015. Resets The patients aged （35. 07 ± 15. 81 ） years （ 13 to 63 years）, 39 of whom were male and 17 were female. Electromyography of 49 patients showed that 41 had myogenic damage, 4 had non- myogenic damage and 4 were normal. Creatine kinase level was normal in 15 patients and elevated in 38 patients （883.50 （490. 08, 1 577.25） U/L）. Lactate dehydrogenase level was normal in 22 patients and elevated in 31 patients （ （492. 72 ± 277. 00） U/L）. The intervals of redo-biopsy were ranged from 8 days to 20 years, with an average of 1.00 （0. 35, 2. 90） year. Eight patients underwent a second redo-biopsy in 1 month. The diagnosis from the second redo-biopsy showed 3 situations. First, 19.6% （11/56） patients＇ diagnoses were unchanged, including muscular dystrophy, lipid storage myopathy, glycogen storage disease, inclusion body myopathy, polymyositis, dermatomyositis, necrotizing myopathy, inflammatory myopathy and myogenic abnormality. Second, 57.2% （32/56） patients＇ second redo-biopsy made a definitive diagnosis which was not on the first biopsy. The first diagnoses mainly included nonspecific damages, polymyositis,mitochondrial myopathy, muscular dystrophy, myofibrillar disease, and muscle membrane myositis. However, the second diagnoses were corrected with muscular dystrophy, lipid storage myopathy, glycogen sedimentary myopathy, mitochondrial myopathy, mitochondrial myopathy associated with lipid storage myopathy, inclusion body myopathy, inflammatory rnyopathy, tube clustering myopathy, autoimmune myopathy, rod body myopathy, necrotizing myopathy, and neurogenic muscular atrophy. Third, 23.2% （13/56） patients still failed to make a definitive diagnosis in both biopsies. Conclusions A redo-muscle biopsy is required in some complicated cases, but a definite diagnosis might still be unable to reach. Therefore, the cases must be chosen strictly for a redo-muscle biopsy.