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错误的法布里病诊断:我们应该选多发性硬化症患者吗?

Petra Rekova¹, Ivana Kovarova¹, Tomas Uher¹

¹Department of Neurology and Centre of Clinical Neuroscience, First Faculty of Medicine, Charles University in Prague and General University Hospital, Prague, Czechia.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

|July 22, 2023

概括

在疑似患有多发性硬化症 (MS) 的患者中很少发现法布里病 (FD). 通常不建议对FD进行查,但对FD症状的认识对于MS患者的差异诊断至关重要.

科学领域:

神经学神经学
遗传学遗传学是一个
罕见疾病罕见疾病

背景情况:

费布里病 (FD) 和多发性硬化症 (MS) 分享重叠的症状,导致潜在的误诊.
在患有类似MS的临床和准临床特征的患者中,FD往往仍未被诊断出来.

研究的目的:

确定疑似或确定的多发性硬化症 (MS) 患者中法布里病 (FD) 的患病率.
评估在这个患者群体中进行常规FD查的必要性.

主要方法:

一项前性,单心的观察性研究包括160名怀疑患有MS的患者.
查FD涉及基因和酶测试在干燥的血液斑点.
患者的随访时间为3-5年.

主要成果:

在160名患者中,没有一个患有病原性GLA变异;四人有未知意义的变异.
两名患者表现出轻微的眼睛和脏干扰.
在可能或确定的MS患者中没有证实FD.

结论:

在疑似或确定的MS患者中,FD的患病率很低.
没有支持常规的FD查,但对FD红旗的警是必不可少的.
在MS的差异诊断中应考虑FD.

关键词:

一种未知意义的变体.差异诊断是一种差异诊断.费布里病是什么意思费布里病是什么意思一个错误的诊断.多发性硬化症是多发性硬化症.查检查查检查查检查

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