• 作者：Janine Reunert^a ; Manfred Fobker^b ; Frank Kannenberg^b ; Ingrid Du Chesne^a ; Maria Plate^a ; Judith Wellhausen^a ; Stephan Rust^a ; Thorsten Marquardt^a ; ^{marquat@uni-muenster.de" class="auth_mail" title="E-mail the corresponding author}
• 关键词：NPC ; Niemann Pick type C ; c-triol/cholestantriol ; cholestane-3β ; 5α ; 6β-triol ; 7-KC ; 7-ketocholesterol ; CESD ; cholesterol ester storage disease ; EVS ; exome variant server ; HGMD ; Human Gene Mutation Database ; ROC ; receiver-operating-characteristic
• 刊名：EBioMedicine
• 出版年：2016
• 出版时间：February 2016
• 年：2016
• 卷：4
• 期：Complete
• 页码：170-175
• 全文大小：593 K

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Improved diagnostics of Niemann Pick type C disease using a cholesterol oxidation product (c-triol) as biomarker

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Identification of 71 Niemann Pick type C patients by a simple blood test

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Cholestantriol should replace the filipin test as first-line diagnostic assay.

Due to the heterogeneous clinical phenotype and the lack of appropriate screening biomarkers, Niemann Pick type C was assumed to be an underdiagnosed disease. The accumulation of cholesterol and oxidative stress in NP-C cells lead to an increased oxidation rate of cholesterol. As already demonstrated by Porter et al. (2010) and Jiang et al. (2011), several oxysterols are elevated in confirmed NP-C patients. A large scale study was initiated to prove the clinical use of cholestane-3β,5α,6β-triol as a screening biomarker for Niemann Pick type C disease. We were able to identify numerous NP-C-patients in 1902 samples sent in from different countries, demonstrating that with appropriate screening centers much more patients would benefit from an earlier diagnosis and therapy.