Role of novel laboratory techniques in Niemann-Pick type C disease diagnostics

Czech version

Authors: M. Hřebíček ¹; H. Jahnová ²; L. Dvořáková ^1,2; F. Majer ¹; D. Mušálková ¹; J. Ledvinová ¹; L. Kuchař ¹
Authors‘ workplace: Laboratoř pro studium vzácných nemocí, Klinika dětského a dorostového, lékařství 1. LF UK a VFN v Praze ¹; Klinika dětského a dorostového lékařství 1. LF UK a VFN v Praze ²
Published in: Cesk Slov Neurol N 2020; 83/116(3): 263-268
Category: Review Article
doi: https://doi.org/10.14735/amcsnn2020263

Overview

This review provides a summary of current approaches to Niemann-Pick disease type C (NP-C) diag-nostics with an emphasis on novel laboratory techniques. NP-C is a severe autosomal recessive neurovisceral disorder and the recent availability of disease-modifying therapies increases the importance of its timely diagnosis. The hereditary deficiency of cholesterol transporter proteins (NPC1 or NPC2) in NP-C leads to abnormal intracellular lipid trafficking. Clinical suspicion for NP-C has to be confirmed by biochemical and/or molecular genetic methods. Novel biomarkers in serum or plasma and advanced sequencing techniques now have a prominent role in NP-C diagnostics. In a subset of patients, it is necessary to use several complementary techniques for confirmation of NP-C diagnosis, including advanced biochemical and cellular assays discussed in the paper. These methods therefore have to be available in a specialized laboratory.Niemann-Pickova choroba typu C – diagnostika – intracelulární transport cholesterolu – biomarkery – lyzosfi ngolipidy – oxysteroly – fi lipinový test

Keywords:

biomarkers – oxysterols – Niemann-Pick disease type C – diagnostics – intracellular cholesterol traffi cking – lysosphingolipids – filipin test

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