Duchenne型进行性肌营养不良30例临床与病理分析

Clinical and pathological analysis of 30 children with Duchenne muscular dystrophy

目的探讨Duchenne型进行性肌营养不良(DMD)的临床与病理特征,为其早期诊断与治疗提供帮助。方法对30例经免疫组化测定Dystrophin蛋白而确诊的患者的临床与病理资料进行回顾性分析。结果本组患者平均年龄6.9岁,5例有家族史,2例伴有智力障碍。25例患者可见典型双下肢腓肠肌肥大,Gower征阳性25例,鸭步21例,翼状肩胛18例。30例患者血清肌酶升高,以肌酸激酶(CK)升高为主。28例行肌电图检查提示肌源性损害,肌肉活检示典型肌营养不良病理表现,其中5例可见肌纤维分裂及漩涡状肌纤维,4例NADH染色可见虫噬状肌纤维,ATP染色2例I型肌纤维优势,1例II型肌纤维优势,ORO染色部分肌纤维脂肪成分轻度增高9例。结论 DMD起病年龄较早,肌无力为其主要临床症状,血清酶学与肌电图检查有助于诊断,结合肌肉活检可明确诊断。

Objective To explore the Clinical and pathological characteristics of Duchenne muscular dystrophy（DMD）.Methods The clinical and pathological data of 30 children with confirmed diagnosis of DMD was retrospectively studied.Results Mean age of the 30 children was 6.9 years old,and 17% of them had positive family history.83% of children presented typical signs and symptoms of the disease,with Gower sign in 25 cases,duck-step in 21 cases and winged scapula in 18 cases.All serum enzyme levels were raised,increased activity of CK was the highest.Electromyogram showed muscle damage in 28 patients.All muscular biopsy showed typical pathological features.5 cases were found muscle fiber splitting and whirlpool,and 4 cases were found muscle fiber-like insect bites in NADH staining.2 cases were associated with type I grouping and 1 case was associated with type II grouping.ORO staining showed fat content of muscle fibers increased in 9 patients.Conclusions DMD mainly involves the muscles.According to serum enzyme test and electromyography,DMD can be defined in combination with muscle biopsy.