Improvement of life quality measured by Lansky Score after enzymatic replacement therapy in children with Gaucher disease type 1

Improvement of life quality measured by Lansky Score after enzymatic replacement therapy in... IntroductionGaucher disease type I (GD1, OMIM# 230800), is a multi‐systemic metabolic disorder due to the inherited deficiency of the lysosomal enzyme β‐glucocerebrosidase (acid β‐glucosidase; D‐glucosyl‐N‐acylsphingosine glucohydrolase, GCase; EC 3.2.1.45) encoded by the human GBA1 gene (GenBank reference sequence NG_009783.1) resulting in accumulation of glucosylceramide, also called glucocerebroside, within the lysosomes of cells, particularly macrophages, with damage to hematological, visceral, and bone tissues (Weinreb et al. ).WHO defines Quality of life (QoL) as an individual's perception of their position in life in the context of the culture and value systems in which they live and in relation to their goals, expectations, standards, and concerns (The WHOQOL Group, ). Patients with GD1 could range from asymptomatic subjects to those who display child‐onset disease affecting QoL, because the disease limits the goals and expectations, and affects the position in life of children and parents. Then, if we measure the change in the perception that children could have of their life we can assess the change in their QoL, because after treatment they could have an almost normal life instead of an ill‐related life. Damiano et al. (); Masek et al. (); Giraldo et al. (); Pastores et al. (); Giraldo et al. (); Weinreb et al. (); Oliveira et al. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Molecular Genetics & Genomic Medicine Wiley

Improvement of life quality measured by Lansky Score after enzymatic replacement therapy in children with Gaucher disease type 1

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Publisher
Wiley
Copyright
Copyright © 2018 John Wiley & Sons Ltd.
ISSN
2324-9269
eISSN
2324-9269
D.O.I.
10.1002/mgg3.339
Publisher site
See Article on Publisher Site

Abstract

IntroductionGaucher disease type I (GD1, OMIM# 230800), is a multi‐systemic metabolic disorder due to the inherited deficiency of the lysosomal enzyme β‐glucocerebrosidase (acid β‐glucosidase; D‐glucosyl‐N‐acylsphingosine glucohydrolase, GCase; EC 3.2.1.45) encoded by the human GBA1 gene (GenBank reference sequence NG_009783.1) resulting in accumulation of glucosylceramide, also called glucocerebroside, within the lysosomes of cells, particularly macrophages, with damage to hematological, visceral, and bone tissues (Weinreb et al. ).WHO defines Quality of life (QoL) as an individual's perception of their position in life in the context of the culture and value systems in which they live and in relation to their goals, expectations, standards, and concerns (The WHOQOL Group, ). Patients with GD1 could range from asymptomatic subjects to those who display child‐onset disease affecting QoL, because the disease limits the goals and expectations, and affects the position in life of children and parents. Then, if we measure the change in the perception that children could have of their life we can assess the change in their QoL, because after treatment they could have an almost normal life instead of an ill‐related life. Damiano et al. (); Masek et al. (); Giraldo et al. (); Pastores et al. (); Giraldo et al. (); Weinreb et al. (); Oliveira et al.

Journal

Molecular Genetics & Genomic MedicineWiley

Published: Jan 1, 2018

Keywords: ; ; ; ; ;

References

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