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

Molecular Genetics & Genomic Medicine
Magdalena Cerón-RodríguezJuan L Salgado-Loza

Abstract

Gaucher disease type 1 (GD1, OMIM# 230800), is a condition with high impact in patient's quality of life (QoL). We report the improvement in QoL of children with GD1 measured by Lansky play-performance scale (LS) after enzymatic replacement therapy (ERT) and to describe our experience in the treatment of children with GD1. Five children with diagnosis of GD1 received imiglucerase 60 mg/kg every two weeks. LS, hepatomegaly, splenomegaly, hemoglobin, platelets, and growth rate were measured every 6 months after beginning ERT for 30 months. After ERT, LS increased significantly from 28 ± 16.48 points before ERT to 70 ± 10 (P = 0.0046) and 95 ± 10 (P = 0.0022) points after 6 and 30 months of ERT, respectively; hemoglobin and platelets changed significantly from 9.28 ± 0.61 to 12.40 ± 0.85 (P = 0.0198) and from 71.50 ± 14.89 to 205.00 ± 65.34 (P = 0.0428) after 30 months of ERT, respectively. All patients demonstrated decreased hepatic and splenic size with mean reductions of 66% and 80% at 30 months of treatment and the USG longitudinal axis was reduced in both liver and spleen after ERT. The use of ERT with imiglucerase 60 mg/kg every two weeks has substantial benefits and significantly improves QoL, assessed with Lansky Score, of...Continue Reading

References

Oct 1, 1987·Cancer·S B LanskyD R Miller
Aug 6, 1998·Quality of Life Research : an International Journal of Quality of Life Aspects of Treatment, Care and Rehabilitation·A M DamianoJ E Ware
Sep 3, 1999·Quality of Life Research : an International Journal of Quality of Life Aspects of Treatment, Care and Rehabilitation·B J MasekD K Norman
Jan 7, 2004·Journal of Inherited Metabolic Disease·G M PastoresE H Kolodny
May 17, 2005·Quality of Life Research : an International Journal of Quality of Life Aspects of Treatment, Care and Rehabilitation·Pilar GiraldoUNKNOWN Spanish Group on Gaucher disease
Sep 15, 2012·Journal of Inherited Metabolic Disease·Neal J WeinrebCarla Hollak
Feb 23, 2013·JIMD Reports·Fabiane Lopes OliveiraIda Vanessa D Schwartz

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Citations

Mar 4, 2020·American Journal of Medical Genetics. Part a·Andrea G AliotoWendy Packman
Nov 22, 2020·Molecular Genetics & Genomic Medicine·Vitória S ZizemerAna Paula Vanz
Jan 15, 2019·La Revue de médecine interne·Y NguyenN Belmatoug

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Methods Mentioned

BETA
enzymatic replacement therapy

Software Mentioned

PedsQL
GNU
PSPP

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