CAJ | 학술논문

目的回顾分析96例Duchenne型肌营养不良(Duchenne muscular dystrophy,DMD)患者的临床、实验室表现,并评判其对糖皮质激素治疗的效果.方法收集96例DMD患者的临床、实验室及随访资料,按年龄分为≤3岁,4、5、6、7、8、9岁以及≥10岁组(共8组),分析各组激素治疗前后患者血肌酸激酶(CK)和运动功能,采用心肌灌注断层显像评价DMD心肌受累程度,并用韦氏儿童智力量表评价其智能情况.结果(1)血CK(mmol/L)在≤3岁(16547.9±770.9)、5岁(14 371.9±696.7)和8岁组(13 089.8±877.6)分别出现1个高峰;全部患者静脉滴注地塞米松(5～10 mg)10～15 d后血CK显著下降,口服醋酸泼尼松(0.50～0.75 mg· kg-1·d-1)1个月后血CK复升,不同治疗时相之间血CK存在差异(F=6.758,P=0.003).(2)全部患者中有51例长期口服醋酸泼尼松并随访,其中24例反复地塞米松静脉点滴,运动功能较激素治疗前改善.(3)37例DMD行心肌灌注断层显像,显示心室肌放射性核素分布不均匀,呈“花斑样”改变.心肌受损程度与年龄正相关(rs=0.685,P＜0.01).(4)24例DMD行智能评估,全部患者智商均低于健康人群.结论 DMD亚临床阶段存在高CK血症、心肌损害,且心肌损害程度与年龄正相关;糖皮质激素治疗对维持DMD运动功能和心功能有效,建议早期应用糖皮质激素治疗.
목적 회고분석96례Duchenne형기영양불량(Duchenne muscular dystrophy,DMD)환자적림상、실험실표현,병평판기대당피질격소치료적효과.방법 수집96례DMD환자적림상、실험실급수방자료,안년령분위≤3세,4、5、6、7、8、9세이급≥10세조(공8조),분석각조격소치료전후환자혈기산격매(CK)화운동공능,채용심기관주단층현상평개DMD심기수루정도,병용위씨인동지역량표평개기지능정황.결과(1)혈CK(mmol/L)재≤3세(16547.9±770.9)、5세(14 371.9±696.7)화8세조(13 089.8±877.6)분별출현1개고봉;전부환자정맥적주지새미송(5～10 mg)10～15 d후혈CK현저하강,구복작산발니송(0.50～0.75 mg· kg-1·d-1)1개월후혈CK복승,불동치료시상지간혈CK존재차이(F=6.758,P=0.003).(2)전부환자중유51례장기구복작산발니송병수방,기중24례반복지새미송정맥점적,운동공능교격소치료전개선.(3)37례DMD행심기관주단층현상,현시심실기방사성핵소분포불균균,정“화반양”개변.심기수손정도여년령정상관(rs=0.685,P＜0.01).(4)24례DMD행지능평고,전부환자지상균저우건강인군.결론 DMD아림상계단존재고CK혈증、심기손해,차심기손해정도여년령정상관;당피질격소치료대유지DMD운동공능화심공능유효,건의조기응용당피질격소치료.
Objective To analyze the clinical and laboratory phenotypes of Duchenne muscular dystrophy(DMD)in a retrospective study of 96 cases and to evaluate therapeutic efficacy of glucocorticosteroid.Methods The clinical phenotype,laboratory examinations resuhs and the records in the follow-up in 96 patients with DMD were collected.The level of serum creatine kinase(CK)and motor ability before and after glucocorticosteroid therapy were analyzed by statistical analysis.Their myocardium impairments and intelligence conditions were also assessed.Results(1)The level of serum CK (mmol/L)had three peaks at the age of ≤ 3 years old(16 547.9 ±770.9),5 years old(14 371.9 ± 696.7)and 8 years old(13 089.8 ± 877.6).The CK level significantly decreased after dexamethasone (5-10 mg,iv)treatment for 10-15 days,but increased again after prednisone acetate(0.50-0.75 mg · kg-1 · d-1,oral)administration for one month(F =6.758,P =0.003).(2)The motor ability improved in 51 DMD cases with long-term oral admission of prednisone,including 24 cases receiving repeated dexamethasone,iv.(3)The myocardial perfusion imaging in 37 DMD cases showed remarkable uneven “spotted like” radionuclide distribution in ventricle.(4)The intelligence quotients in 24 DMD were lower than normal population.Conclusions There are high CK hyperlipidemia and myocardial damage in the sub-clinical stage of DMD and myocardium impairment is positively correlated with age.Glucocorticosteroid therapy has an important effect on the protection of motor and cardiac functions,with recommendation of using in early stage of disease.