特发性小纤维和混合性神经病中 Fabry 病和遗传性ATTR 淀粉样变性的筛查。
Screening for Fabry disease and Hereditary ATTR amyloidosis in idiopathic small-fiber and mixed neuropathy.
机构信息
Department of Clinical Neuroscience, Karolinska Institute, R54, Huddinge, 141 86, Stockholm, Sweden.
Department of Neurology, Karolinska University Hospital, Stockholm, Sweden.
出版信息
Muscle Nerve. 2019 Mar;59(3):354-357. doi: 10.1002/mus.26348. Epub 2018 Dec 4.
INTRODUCTION
In this study we assessed the value of genetic screening for Fabry disease (FD) and hereditary ATTR amyloidosis in patients with idiopathic small-fiber neuropathy (SFN) or mixed neuropathy in a clinical setting.
METHODS
This was a Nordic multicenter study with 9 participating centers. Patients with idiopathic SFN or mixed neuropathy were included. Genetic sequencing of the TTR and GLA genes was performed.
RESULTS
There were 172 patients enrolled in the study. Genetic screening was performed in 155 patients. No pathogenic mutations in the TTR gene were found. A single patient had a possible pathogenic variant, R118C, in the GLA gene, but clinical investigation showed no firm signs of FD.
DISCUSSION
Screening for hereditary ATTR amyloidosis and FD in patients with idiopathic SFN or mixed neuropathy without any additional disease-specific symptoms or clinical characteristics in a Nordic population appears to be of little value in a clinical setting. Muscle Nerve 59:354-357, 2019.
简介
在这项研究中，我们评估了在临床环境中对特发性小纤维神经病（SFN）或混合性神经病患者进行 Fabry 病（FD）和遗传性ATTR 淀粉样变性的基因筛查的价值。
方法
这是一项北欧多中心研究，共有 9 个参与中心。纳入特发性 SFN 或混合性神经病患者。对 TTR 和 GLA 基因进行基因测序。
结果
本研究共纳入 172 例患者，对 155 例患者进行了基因筛查。未发现 TTR 基因的致病性突变。1 例患者 GLA 基因存在可能的致病性变异 R118C，但临床检查未发现 FD 的明确迹象。
讨论
在北欧人群中，对无任何其他特异性疾病症状或临床特征的特发性 SFN 或混合性神经病患者进行遗传性ATTR 淀粉样变性和 FD 的筛查，在临床环境中似乎没有什么价值。神经肌肉 59:354-357, 2019.
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