神经病变戈谢病的定义。
The definition of neuronopathic Gaucher disease.
机构信息
Baylor Scott & White Research Institute, Dallas, Texas.
Prevail Therapeutics, New York, New York.
出版信息
J Inherit Metab Dis. 2020 Sep;43(5):1056-1059. doi: 10.1002/jimd.12235. Epub 2020 Apr 3.
Abstract
Neuronopathic Gaucher disease (nGD) has a very wide clinical and genotypic spectrum. However, there is no consensus definition of nGD, including no description of how best to diagnostically separate the acute form-Gaucher type 2-from the subacute or chronic form-Gaucher type 3. In this article, we define the various forms of Gaucher disease with particular emphasis on the presence of gaze palsy in all patients with nGD. This consensus definition will help in both clinical diagnosis and appropriate patient recruitment to upcoming clinical trials.
摘要
神经病变型戈谢病（nGD）具有非常广泛的临床和基因型谱。然而，目前尚无 nGD 的共识定义，包括如何最好地诊断区分急性形式-戈谢病 2 型与亚急性或慢性形式-戈谢病 3 型。在本文中，我们定义了各种形式的戈谢病，特别强调所有 nGD 患者都存在眼球运动障碍。这个共识定义将有助于临床诊断和适当招募患者参加即将到来的临床试验。
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