Neurological features in Gaucher's disease during enzyme replacement therapy
Neurological features in Gaucher's disease during enzyme replacement therapy
复制标题
酶替代治疗期间戈谢病的神经学特征
作者：
H. Ono;M. Fujiwara;K. Ito;H. Ueda;N. Mizoguchi;N. Sakura
本报告描述了两名戈谢病患者，他们在酶替代治疗期间出现了异常的临床症状。一名患者是一名患有 3 型戈谢病的女性。她在 7 岁时出现心包积液，尽管接受了酶替代治疗，但其中仍含有许多戈谢细胞。尽管她的内脏表现有所改善，但她在酶替代治疗期间因神经系统恶化而死亡。另一名患者是一名患有2型戈谢病的男性，在机械通气和酶替代疗法的支持下实现了长期生存。在4岁时接受酶替代治疗时，他患有全身性皮肤病，临床诊断为鱼鳞病。
This report describes two patients with Gaucher's disease who had unusual clinical symptoms during enzyme replacement therapy. One patient was a female with type 3 Gaucher's disease. She developed a pericardial effusion at 7 y of age, which contained many Gaucher cells despite enzyme replacement therapy. She died from neurological deterioration during enzyme replacement therapy, despite an improvement in her visceral manifestations. The other patient is a male with type 2 Gaucher's disease, who has achieved long‐term survival after being supported by mechanical ventilation and enzyme replacement therapy. While on enzyme replacement therapy at the age of 4y, he suffered a generalized cutaneous disease which was clinically diagnosed as ichthyosis.