Lysosomal storage disorders – development of diagnostic process and treatment in Slovakia
Authors:
K. Juríčková 1; S. Mattošová 2; A. Šalingová 3; P. Jungová 2; K. Brennerová 1; M. Kolníková 4; Ľ. Košťálová 1; A. Hlavatá 1
Authors‘ workplace:
Detská klinika LFUK a NÚDCH, Centrum dedičných metabolických porúch, Bratislava
1; Ústav lekárskej biológie, genetiky a klinickej genetiky LFUK a UNB, Bratislava
2; Oddelenie laboratórnej medicíny NÚDCH, Centrum dedičných metabolických porúch, Bratislava
3; Klinika detskej neurológie LFUK a NÚDCH, Centrum dedičných metabolických porúch, Bratislava
4
Published in:
Čes-slov Pediat 2018; 73 (6): 408-416.
Category:
Overview
Lysosomal storage disorders belong to the group of inborn errors of metabolism. During the last decade these diseases are losing the nickname „untreatable“. Since the end of 20th century the number of treatable disorders is constantly growing. Even better, with satisfactory therapeutic results.
Authors of this paper are describing the development and an availability of diagnostic procedures of lysosomal storage disorders in Slovakia. Furthermore, they add their own clinical experience with dealing with this type of diseases. They are focusing on pitfalls of commencing the treatment and managing the complications resulting from this therapy.
KEY WORDS:
lysosomal storage disorders, diagnostics, enzyme replacement therapy, substrate reducing therapy, bone marrow transplantation, complications of the treatment
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Labels
Neonatology Paediatrics General practitioner for children and adolescentsArticle was published in
Czech-Slovak Pediatrics
2018 Issue 6
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