婴幼儿杜氏型肌营养不良临床表现及其基因和骨骼肌病理特征  

Clinical,genetic and pathologic features of infant Duchenne muscular dystrophy

作　　者：韩春锡[1] 林婧娴[2] 吴维青[3] 陈盼盼[2] 谢建生[3] 廖建湘[2] 

机构地区：[1]深圳市儿童医院神经肌肉病研究室,深圳518026 [2]深圳市儿童医院神经内科,深圳518026 [3]深圳市妇幼保健院产前诊断中心,深圳518017

出　　处：《中国循证儿科杂志》2013年第4期290-294,共5页Chinese Journal of Evidence Based Pediatrics

基　　金：深圳市科技计划项目:201202066;深圳市重症疾病实验室项目:20128661

摘　　要：目的探讨婴幼儿杜氏型肌营养不良(DMD)的临床、基因检测和骨骼肌病理特征,为早期诊断DMD提供依据。方法以2009年6月至2013年3月于深圳市儿童医院神经肌肉病专科首诊,通过DMD基因和(或)肌肉活检确诊为DMD的男性婴幼儿为研究对象,并进行随访。分析病史、临床表现、血清生化、基因以及骨骼肌病理变化。结果 43例患儿纳入研究,首诊年龄1～34(18.2±11.3)月龄。以血清CK和转氨酶水平升高就诊者分别有21例(48.8%)和13例(30.2%)。31/36例(86.1%)出现运动发育延迟。①血清CK、AST和ALT均有不同程度的升高。②DMD基因移码缺失突变29例(67.4%),非移码缺失突变2例(4.6%),单纯重复突变4例(9.3%),重复和缺失同时存在1例(2.3%),有害点突变7例(16.3%)。③12例行肌电图检查,神经传导速度均正常,其中8例提示肌源性损害。④16例行肌活检,可见肌纤维大小不等、大量不透明肌纤维、坏死和再生肌纤维和间质结缔组织增生。肌纤维膜抗肌萎缩蛋白均未表达。结论婴幼儿期DMD患儿缺乏特异的临床症状,但具有典型的肌营养不良病理改变,需要早期诊断和干预。Objective To investigate the clinical, genetic and pathologic features of Duchenne muscular dystrophy （ DMD ） infants. Methods The DMD infants were collected from June 2009 to March 2013 and diagnosed by DMD genetic testing and （or） muscle biopsy. Clinical, genetic and pathological data were retrospectively reviewed and followed up 3 to 41 months. Results In total, 43 cases of DMD infants were enrolled into the study, aged 1 to 34 （ 18.2 -＋ 11.3） months at diagnosis. Among them, 21/43 cases （48. 8% ） and 13/43 cases （30. 2% ） showed elevated serum CK and transaminase levels respectively. 31/36 cases （86. 1% ） of DMD infants showed movement development delay. The serum CK, AST and ALT levels were significantly elevated. DMD gene frameshift deletion mutation was found in 29 cases （6/. 4% ）, non-frameshift deletion mutation in 2 cases （4. 6% ） , simply duplications mutation in four cases （ 11.6% ） , duplications with coexisted deletion mutation in 1 case （ 2.3 % ） , point mutations in 7 cases （ 16.3% ）. 8/12 patients showed prompted myogenic EMG. 12 patients showed normal nerve conduction velocity. Skeletal muscle biopsy showed variations in fiber size, a large number of opaque, necrotic and regenerated fibers and connective tissue hyperplasia. The muscle fiber membrane showed complete absence of dystrnphin expression. Conclusions DMD infants have a lot of muscle fibers degeneration, necrosis. Early diagnosis and intervention arc needed.

关 键 词：DMD基因突变 婴幼儿DMD 肌活检 肌酸激酶 转氨酶 

分 类 号：R746[医药卫生—神经病学与精神病学]