Primary alpha-sarcoglycan deficiency responsive to immunosuppression over three years.
Primary alpha-sarcoglycan deficiency responsive to immunosuppression over three years.
复制标题
原发性α-肌聚糖缺乏症对三年内的免疫抑制有反应。
DOI：
10.1002/(sici)1097-4598(199811)21:11
复制
发表时间：
1998
期刊：
影响因子：
3.4
通讯作者：
Al-Lozi,M
中科院分区：
文献类型：
--
作者：
Connolly,AM;Pestronk,A;Mehta,S;Al-Lozi,M
一名8岁女孩在两年多的时间里出现虚弱，肌酸激酶升高。活检最符合活动性营养不良，有许多炎性细胞存在。一项免疫抑制试验已经开始。在泼尼松治疗的前两个月，她的近端力量在功能和数量上都有了显著的改善。经过3年多的治疗，她保持了稳定的力量。随后的遗传学研究表明，她患有原发的α-肌聚糖缺乏症。力量受益的时间和程度与接受泼尼松治疗的杜氏肌营养不良症男孩相似。©1998 John Wiley&Sons，Inc.肌肉神经21：1549-1553,1998
An 8‐year‐old girl developed weakness over 2 years and an elevated creatine kinase. The biopsy was most consistent with an active dystrophy with many inflammatory cells present. A trial of immunosuppression was started. In the first 2 months of treatment with prednisone, she had functionally and quantitatively significant improvement in her proximal strength. Over 3 years of treatment she maintained stable strength. Subsequent genetic studies showed that she had primary α‐sarcoglycan deficiency. The timing and the degree of benefit in strength were similar to that seen in boys with Duchenne muscular dystrophy who are treated with prednisone. © 1998 John Wiley & Sons, Inc. Muscle Nerve 21: 1549–1553, 1998