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

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


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


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


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