糖皮质激素对Duchenne型肌营养不良患者运动功能的影响
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摘要
目的分析Duchenne型肌营养不良(duchenne muscle dystrophy,DMD)患者糖皮质激素应用对其运动功能的影响。方法选取中国肌营养不良注册登记数据库及该中心Duchenne型肌营养不良多学科联合门诊诊断明确的患者为研究对象,记录患者一般人口学特征,分析糖皮质激素应用对本组患者运动功能的影响。结果肌营养不良注册登记数据库共收集抗肌萎缩蛋白缺陷型肌营养不良1182例,经基因检测明确诊断的Duchenne型肌营养不良996例。996例DMD中适龄患者初次就诊时259例(35.2%)规律应用糖皮质激素,目前激素使用率为57.1%。激素组患者丧失行走能力的平均年龄(11.88±0.33)岁,非激素组年龄(10.50±0.37)岁。7.0~11.9岁年龄组,激素组94.2%保留独立行走能力,6 min步行距离为(329.00±11.48)m,卧立位时间(9.84±0.71)s。非激素组76.5%保留行走能力,6 min步行距离为(126.3±1.09)min,卧立位时间(10.02±1.41)s。12岁以上年龄组,激素组46.6%仍保留行走能力,非激素组12.2%保留行走能力。结论激素使用改善了本组患者运动功能,规范的注册登记及多学科门诊对DMD治疗具有重要意义。
Objective To determine the effects of glucocorticoids on major motor function of Duchenne muscular dystrophy patients from a database registered in China. Methods In this cross-sectional study,we analyzed the clinical data,use of glucocorticoids and major motor function of genetically confirmed DMD patients from our national DMD registry and multidisciplinary clinic databases.Results 1182 dystrophinopathy patients were registered,996 of which are confirmed DMD patients. 35. 2% of DMD registrants in the database were treated with corticosteroids at their first clinical outpatients,compared to the current situation where 57. 1% are using corticosteroids. The age of loss of ambulation in non-corticosteroids treated group is( 10. 50 ± 0. 37) years old,and( 11. 88 ± 0. 33)years old in corticosteroid treated group. Between age 7. 0-11. 9,94. 2% of corticosteroid treated group are capable of walking. Their6-minute-walking-distance performances are( 329. 00 ± 11. 48) meters,and the Gowers' time performances are( 9. 84 ± 0. 71) seconds. In contrast,76. 5% of non-corticosteroids treated group have the capability to walk and achieve( 126. 3 ± 1. 09) meters in the 6-minute-walking-distance test. The mean of their Gower's performance is( 10. 02 ± 1. 41) seconds. 46. 6% of corticosteroid treated group are capable of walking after 12 years old,compared to 12. 2% in non-corticosteroids treated group. Conclusions Our data confirms the benefits of glucocorticoids treatment for motor function of DMD patients. Standardized registration and multidisciplinary diagnosis are of great significance for Duchenne muscular dystrophy.
Objective To determine the effects of glucocorticoids on major motor function of Duchenne muscular dystrophy patients from a database registered in China. Methods In this cross-sectional study,we analyzed the clinical data,use of glucocorticoids and major motor function of genetically confirmed DMD patients from our national DMD registry and multidisciplinary clinic databases.Results 1182 dystrophinopathy patients were registered,996 of which are confirmed DMD patients. 35. 2% of DMD registrants in the database were treated with corticosteroids at their first clinical outpatients,compared to the current situation where 57. 1% are using corticosteroids. The age of loss of ambulation in non-corticosteroids treated group is( 10. 50 ± 0. 37) years old,and( 11. 88 ± 0. 33)years old in corticosteroid treated group. Between age 7. 0-11. 9,94. 2% of corticosteroid treated group are capable of walking. Their6-minute-walking-distance performances are( 329. 00 ± 11. 48) meters,and the Gowers' time performances are( 9. 84 ± 0. 71) seconds. In contrast,76. 5% of non-corticosteroids treated group have the capability to walk and achieve( 126. 3 ± 1. 09) meters in the 6-minute-walking-distance test. The mean of their Gower's performance is( 10. 02 ± 1. 41) seconds. 46. 6% of corticosteroid treated group are capable of walking after 12 years old,compared to 12. 2% in non-corticosteroids treated group. Conclusions Our data confirms the benefits of glucocorticoids treatment for motor function of DMD patients. Standardized registration and multidisciplinary diagnosis are of great significance for Duchenne muscular dystrophy.
引文
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[7]陈银红,王晓静,沈宏锐,等.杜氏肌营养不良和遗传咨询[J].临床荟萃,2013,28(5):590-592.
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[11]Gloss D,Moxley R T,Ashual S,et al.Practice guideline update summary:corticosteroid treatment of Duchenne muscular dystrophy[J].Neurology,2016,86:465-472.
[12]Bello L,Gordish-Dressman H,Morgenroth L P,et al Prednisone/prednisolone and deflazacort regimens in the CINRG Duchenne Natural History Study[J].Neurology,2015,85(12):1048-1055.
[13]Matthews E,Brassington R,Kuntzer T,et al.Corticosteroids for the treatment of Duchenne muscular dystrophy[J].Cochrane Database Syst Rev,2016,5(5):CD003725.
[14]Spurney C,Shimizu R,Morgenroth L P,et al.International Neuromuscular Research Group Duchenne Natural History Study demonstrates insufficient diagnosis and treatment of cardiomyopathy in Duchenne muscular dystrophy[J].Muscle Nerve,2014,50:250-256.
[15]Nakamura H,Kimura E,Mori Yoshimura M,et al.Characteristics of Japanese Duchenne and Becker muscular dystrophy patients in a novel Japanese national registry of muscular dystrophy(Remudy)[J].Orphanet J Rare Dis,2013,8:60.
[16]Hoffman E P,Reeves E,Damsker J,et al.Novel approaches to corticosteroid treatment in Duchenne muscular dystrophy[J].Phys Med Rehabil Clin N Am,2012,23(4):821-828.
[2]Bello L,Morgenroth L P,Gordish-Dressman H,et al.DMD genotypes and loss of ambulation in the cinrg duchenne natural history study[J].Neurology,2016,87(4):401-409.
[3]Zubrzycka Gaarn E E,Bulman D E,Karpati G,et al.The Duchenne muscular dystrophy gene product is localized in sarcolemma of human skeletal muscle[J].Nature,1988,333:466-469.
[4]Mendell J R,Shilling C,Leslie N D,et al.Evidencebased path to newborn screening for Duchenne muscular dystrophy[J].Ann Neurol,2012,71(3):304-313.
[5]Moat S J,Bradley D M,Salmon R,et al.Newborn bloodspot screening for Duchenne muscular dystrophy:21 years experience in Wales(UK)[J].Eur J Hum Genet,2013,21(10):1049-1053.
[6]Mc Donald C M,Henricson E K,Abresch R T,et al.CINRG Investigators.Long-term effects of glucocorticoids on function,quality of life,and survival in patients with Duchenne muscular dystrophy:a prospective cohort study[J].Lancet,2018,391(3):451-461.
[7]陈银红,王晓静,沈宏锐,等.杜氏肌营养不良和遗传咨询[J].临床荟萃,2013,28(5):590-592.
[8]Katharine B,Richard F,David J B,et al.Diagnosis and management of Duchenne muscular dystrophy,part2:implementation of multidisciplinary care[J].Lancet Neurol,2010,9:177-189.
[9]Ryder S,Leadley R M,Armstrong N,et al.The burden,epidemiology,costs and treatment for Duchenne muscular dystrophy:an evidence review[J].Orphanet J Rare Dis,2017,12:79.
[10]李西华,赵蕾,胡超平,等.复旦大学附属儿科医院Duchenne型和Becker型肌营养不良症数据库的建立[J].中国现代神经疾病杂志,2015,15(5):360-368.
[11]Gloss D,Moxley R T,Ashual S,et al.Practice guideline update summary:corticosteroid treatment of Duchenne muscular dystrophy[J].Neurology,2016,86:465-472.
[12]Bello L,Gordish-Dressman H,Morgenroth L P,et al Prednisone/prednisolone and deflazacort regimens in the CINRG Duchenne Natural History Study[J].Neurology,2015,85(12):1048-1055.
[13]Matthews E,Brassington R,Kuntzer T,et al.Corticosteroids for the treatment of Duchenne muscular dystrophy[J].Cochrane Database Syst Rev,2016,5(5):CD003725.
[14]Spurney C,Shimizu R,Morgenroth L P,et al.International Neuromuscular Research Group Duchenne Natural History Study demonstrates insufficient diagnosis and treatment of cardiomyopathy in Duchenne muscular dystrophy[J].Muscle Nerve,2014,50:250-256.
[15]Nakamura H,Kimura E,Mori Yoshimura M,et al.Characteristics of Japanese Duchenne and Becker muscular dystrophy patients in a novel Japanese national registry of muscular dystrophy(Remudy)[J].Orphanet J Rare Dis,2013,8:60.
[16]Hoffman E P,Reeves E,Damsker J,et al.Novel approaches to corticosteroid treatment in Duchenne muscular dystrophy[J].Phys Med Rehabil Clin N Am,2012,23(4):821-828.