Hołub Tomasz, Kędzierska Kamila, Muras-Szwedziak Katarzyna, Nowicki Michał
Department of Nephrology, Hypertension and Kidney Transplantation, Medical University of Lodz, Poland.
Intractable Rare Dis Res. 2021 Nov;10(4):276-282. doi: 10.5582/irdr.2021.01115.
Neurofilament Light Chain (NfL) serum concentration is a new noninvasive marker of neurodegenerative disorders. Fabry disease (FD) leads to accumulation of glycosphingolipids in tissues leading to progressive damage of critical body systems and organs, including peripheral and central nervous system. There are no established serum markers of neurodegeneration in FD. Our cross-sectional single-center study was designed to prove the concept that serum NfL levels could reflect the severity of cognitive impairment and indirectly, the level of central nervous system involvement in women at earlier stages of FD. Twelve women with a diagnosis of FD confirmed by genetic tests and 12 matched healthy subjects were included. Serum concentrations of NfL were measured in all subjects together with neuropsychological tests that included Mini Mental State Examination (MMSE) and Montreal Cognitive Assessment Scale (MoCA). Quality of life was assessed with the Short Form Survey (SF-36). FD patients and healthy subjects did not differ with respect to serum NfL concentration, results of neuropsychological tests and quality of life. There was a significant positive correlation between NfL and globotriaosylosphingosine (lyso-Gb3) concentration in women with FD (R = 0,69, = 0.01). There was also a correlation between NfL concentration and MoCA score but not MMSE score. Receiver operating characteristic (ROC) analysis showed that the best predictor for Mild Cognitive Impairment in both groups was eGFR. Serum NfL concentration does not appear to predict the degree of nervous system involvement in women with FD.
神经丝轻链（NfL）血清浓度是神经退行性疾病的一种新型无创标志物。法布里病（FD）会导致糖鞘脂在组织中蓄积，进而导致包括外周和中枢神经系统在内的关键身体系统和器官逐渐受损。目前尚无已确立的FD神经退行性变血清标志物。我们的横断面单中心研究旨在验证血清NfL水平能够反映认知障碍严重程度这一概念，并间接反映FD早期女性中枢神经系统受累程度的概念。研究纳入了12名经基因检测确诊为FD的女性以及12名匹配的健康受试者。对所有受试者均检测了NfL血清浓度，并进行了包括简易精神状态检查表（MMSE）和蒙特利尔认知评估量表（MoCA）在内的神经心理学测试。使用简短健康调查问卷（SF-36）评估生活质量。FD患者与健康受试者在血清NfL浓度、神经心理学测试结果和生活质量方面并无差异。FD女性患者的NfL与球三糖基鞘氨醇（lyso-Gb3）浓度之间存在显著正相关（R = 0.69，P = 0.01）。NfL浓度与MoCA评分之间也存在相关性，但与MMSE评分无关。受试者工作特征（ROC）分析表明，两组中轻度认知障碍的最佳预测指标均为估算肾小球滤过率（eGFR）。血清NfL浓度似乎无法预测FD女性患者的神经系统受累程度。
