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两兄弟中IIb型糖原贮积病的良性病程:先天还是后天?

Benign course of glycogen storage disease type IIb in two brothers: nature or nurture?

作者信息

Slonim Alfred E, Bulone Linda, Minikes Jennifer, Hays Arthur P, Shanske Sara, Tsujino Seiichi, DiMauro Salvatore

机构信息

North Shore University Hospital, New York University School of Medicine, Manhasset, New York, USA.

出版信息

Muscle Nerve. 2006 Apr;33(4):571-4. doi: 10.1002/mus.20473.

Abstract

Two brothers with the childhood variant of type II glycogenosis (GSD-IIb) treated with nutrition and exercise therapy (NET) from a young age showed an unusually benign course. Muscle biopsy from the older brother, which showed characteristic vacuolar glycogen accumulation at age 2, had reverted to normal by age 16. A muscle biopsy from the younger brother was normal at 5 years. It is uncertain whether this anomalous evolution was spontaneous (nature) or due to the symptomatic therapy (nurture), but NET should be considered in patients with GSD-IIb until enzyme replacement or gene therapy become generally available.

摘要

两名患有儿童期II型糖原贮积病(GSD-IIb)的兄弟自幼接受营养和运动疗法(NET)治疗,病情发展异常良性。哥哥2岁时肌肉活检显示有特征性的空泡状糖原积累,到16岁时已恢复正常。弟弟5岁时的肌肉活检结果正常。尚不确定这种异常演变是自发的(天性)还是由于对症治疗( nurture),但在酶替代疗法或基因疗法普遍可用之前,GSD-IIb患者应考虑采用NET治疗。

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