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目的探讨婴幼儿贝克型肌营养不良(BMD)临床、DMD基因突变及骨骼肌病理特征。方法 2009年6月至2013年3月深圳市儿童医院神经肌肉病研究室专科门诊通过DMD基因检测和肌肉活检确诊为BMD男性婴幼儿17例,年龄3～36个月,平均年龄(24±12)个月。对患儿临床表现、血清肌酸激酶(CK)、天门冬氨酸氨基转移酶(AST)、丙氨酸氨基转移酶(ALT)、基因检查以及骨骼肌病理变化进行回顾性分析。结果 (1)婴幼儿BMD无或仅有轻微肌营养不良临床表现;(2)CK、AST、ALT分别为正常值上限的35、3、2.7倍,CK与AST(r=0.892,P<0.01)、CK与ALT(r=0.819,P<0.01)之间有正相关;(3)DMD基因检查非移码缺失突变15例(88%);(4)肌肉活检:肌纤维大小不等,坏死和再生肌纤维呈灶状分布,脂肪结缔组织轻度增生。肌纤维膜上抗Dystrophy-C、N、R抗体免疫染色不均匀或阳性纤维之间阴性纤维呈斑片状分布。结论血清CK和转氨酶升高是诊断BMD的重要生化指标,DMD基因检测和骨骼肌dystrophin免疫组织化学检查是确诊BMD的重要手段。
Objective To investigate the clinical features of skeletal muscle and skeletal muscle in Becker and Dystrophy patients. Methods From June 2009 to March 2013, 17 outpatients with BMD male infants and young children were diagnosed by DMD gene test and muscle biopsy from the Department of Neuromuscular Diseases, Shenzhen Children’s Hospital, aged from 3 to 36 months, with an average age of 24 ± 12 ) Months. The clinical manifestations, serum creatine kinase (CK), aspartate aminotransferase (AST), alanine aminotransferase (ALT), genetic tests and pathological changes of skeletal muscle were retrospectively analyzed. Results (1) The clinical manifestations of BMD were mild or mild muscular dystrophy in infants and young children. (2) CK, AST and ALT were 35, 3 and 2.7 times of the upper limit of normal, CK and AST (r = 0.892, ), Positive correlation between CK and ALT (r = 0.819, P <0.01); (3) 15 cases (88%) of non-frameshift mutation in DMD gene test; (4) Muscle biopsy: And regenerative muscle fibers were focal distribution, mild fatty connective tissue hyperplasia. Anti-Dystrophy-C, N, R antibodies on muscle fiber membrane Immunostaining uneven or positive fibers between the negative fibers patchy distribution. Conclusion Serum CK and elevated transaminase are important biochemical markers in the diagnosis of BMD. The detection of DMD gene and skeletal muscle dystrophin immunohistochemistry is an important method to diagnose BMD.