Clinica Chimica Acta：硫酸盐结合胆固醇代谢物作为C型尼曼-皮克病尿生物标志物的诊断性能评价

2019-09-13 gladiator MedSci原创

尼曼<span lang="EN-US" style="font-size:12.0pt;mso-bidi-font-size:14.0pt;font-family:"Calibri","sans-serif"; mso-fareast-font-family:宋体;mso-bidi-font-family:"Times New Roman&qu

尼曼-皮克病(NPC)是一种常染色体隐性遗传疾病，伴有进行性神经元变性。由于传统的诊断方法复杂、侵入性强，人们逐渐倾销于生物标志物检测。本研究的目的是评价三种尿结合胆固醇代谢物作为NPC的诊断生物标志物。

研究人员分析了23例NPC患者、28例健康对照者和7例遗传性代谢紊乱患者的尿液样本。通过液相色谱 - 串联质谱法定量3β-磺酰氧基-7β-N-乙酰葡糖胺基-5-胆碱-24-酸及其尿液中的甘氨酸和牛磺酸结合物。评估三种代谢物的诊断性能及其总浓度。

研究发现NPC患者肌酐校正后的三种代谢物浓度及其总浓度均显着升高（0.0098

）。所有代谢物接受者操作曲线下面积超过0.95，临床特异性为92-100％，临床敏感性为~95％。其他遗传性代谢性疾病患者尿中代谢物浓度低于NPC患者尿中代谢物浓度。

研究表明，尿液中的这些缀合的胆固醇代谢物可以作为非侵入性筛查NPC的有用诊断标志物。

原始出处：

Masamitsu Maekawa，Aya Narita，Diagnostic performance evaluation of sulfate-conjugated cholesterol metabolites as urinary biomarkers of Niemann–Pick disease type C

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2021-03-23 病毒猎手

#尼曼-皮克病#

52 0
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2020-08-10 旅苦化文_216

#代谢物#

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2020-03-17 windight

#CTA#

28 0
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2020-06-29 swallow

#诊断性#

26 0
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2020-01-07 zhouqu_8

#标志物#

35 0
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2019-09-15 huagfeg

#评价#

30 0
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2019-09-15 zhu_jun9842

#生物标志#

19 0
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#生物标志#

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