摘要：

目的 探讨Duchenne 型肌营养不良症患儿临床表现、辅助检查和激素治疗原则。方法 回顾分析155 例Duchenne 型肌营养不良症患儿首诊临床资料，反复间断予地塞米松5 ~ 10 mg/d 静脉滴注10 ~ 15 d 和醋酸泼尼松0.50 ~ 0.75 mg/（kg·d）口服1 个月，比较治疗前后患儿下肢运动功能、血清肌酸激酶水平和^99mTc-甲氧基异丁基异晴（^99mTc-MIBI）门控心肌灌注显像（GMPI）所示的心肌核素显像。结果 （1）随访70 例反复激素治疗的患儿，与治疗前相比，治疗后患儿下肢运动功能改善（蹲起：Z = 207.000，P = 0.034；上楼梯：Z = 237.000，P = 0.008）。（2）首诊的155 例患儿血清肌酸激酶水平于3 岁达峰值，8 岁后逐年下降（均P < 0.05）。随访的70 例患儿血清肌酸激酶水平于静脉滴注激素后较治疗前下降（P = 0.000）；于口服小剂量激素1 个月后较静脉滴注后升高（P = 0.000），但仍低于治疗前（P = 0.008）。（3）77 例患儿^99mTc-MIBI GMPI显像均显示不同程度心肌受累，左心室放射性核素分布明显不均匀，以心尖部（55 例）、下壁（45 例）、前壁（30 例）显著。结论 Duchenne 型肌营养不良症患儿亚临床期即出现血清肌酸激酶水平升高，8 岁后逐年下降；糖皮质激素治疗对维持下肢运动功能、延长行走时间、降低血清肌酸激酶水平、减少肌细胞破坏均有效，建议尽早开始激素治疗。

关键词: 肌营养不良, 杜氏, 运动障碍, 肌酸激酶, 糖皮质激素类

Abstract:

Objective  To investigate the clinical manifestations and laboratory examinations of Duchenne muscular dystrophy (DMD) patients and evaluate the principle of intermittent intravenous combined with oral glucocorticoid therapy.  Methods  The clinical features, laboratory examinations and follow-up data of 155 DMD patients were collected. These patients were given dexamethasone 5-10 mg/d by intravenous infusion for 10-15 d and oral prednisone acetate 0.50-0.75 mg/(kg·d) for one month. After treatment, the motor ability of lower limbs, the level of serum creatine kinase (CK) and ^99mTc-MIBI gated myocardial perfusion imaging (GMPI) findings were compared with those before glucocorticoid therapy by statistical analysis.  Results  1) The motor ability was improved in 70 follow-up cases of DMD patients
with long-term oral prednisone (squat and rise: Z = 207.000, P = 0.034; climbing stairs: Z = 237.000, P = 0.008). 2) The level of serum CK of 155 first diagnosed patients reached the peak at 3 years old, and declined after the age of 8 (P < 0.05, for all). The serum CK of 70 follow-up cases was significantly decreased after 10-15 d dexamethasone intravenous infusion (P = 0.000), and increased again after one-month oral administration of prednisone acetate (P = 0.000), but was still lower than that before treatment (P = 0.008). 3) The ^99mTc-MIBI GMPI of 77 patients showed different degrees of myocardial involvement and significantly uneven left ventricular radionuclide distribution, especially in apex cordis (55 cases), inferior wall (45 cases) and anterior wall (30 cases) of apex.  Conclusions  There exists increased level of serum CK in the sub-clinical stage of DMD. The level of serum CK declined year by year after the age of 8. Intermittent intravenous combined with oral glucocorticoid therapy has an important effect on protecting motor and cardiac functions, extending walking time and reducing serum CK level and muscle cell damage. Early glucocorticoid therapy is recommended.

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