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Fabry Disease pp 433-454 | Cite as

Enzyme Replacement Therapy in Children with Fabry Disease

  • Uma RamaswamiEmail author
Chapter

Abstract

Anderson-Fabry Disease (FD) is an X-linked glycosphingolipid storage disorder caused by a deficiency of α-galactosidase A. This deficiency results in a slowly progressive disease due to the accumulation of globotriaosylceramide (Gb3) in cells of various tissues and occurs in both males and females. The early non specific gastrointestinal symptoms and unexplained pain of this progressive condition often results in a delay in diagnosis by up to a decade. The safety and efficacy of treatment with Enzyme Replacement Therapy (ERT) with both agalsidase alfa and agalsidase beta has been well documented in adults. More recent studies have also shown the response to ERT in adults to be less effective when started in the later stages of disease progression. The optimal timing and dosing of ERT to delay or stop cardiac and renal complications of FD is currently unknown. The early clinical presentation of FD is heterogeneous with life threatening complications seen in adults being uncommon in children. The published literature of studies in children is currently limited but demonstrates safety and encouraging early efficacy data. Long term follow up data on the safety and efficacy of ERT in children is essential and this emphasizes the importance of accurate and meticulous data collection, both as individual treating clinicians and also for collating data on such rare diseases using the disease-specific global registries.

Keywords

Enzyme replacement therapy Fabry Disease Safety Efficacy Infusion associated reaction Agalsidase alfa Agalsidase beta 

Abbreviations

α-Gal A

α-galactosidase A

BPI

Brief pain inventory

CTH

Ceramidetrihexoside

eGFR

Estimated glomerular filtration rate

ERT

Enzyme replacement therapy

FD

Fabry disease

Gb3

Globotriaosylceramide

GI

Gastrointestinal

IAR

Infusion associated reaction

IgE

Immunoglobulin E

IgG

Immunoglobulin G

LVM/h

Left ventricular mass indexed for height

Lyso Gb3

Globotriaocylsphingosine

MSSI

Mainz Severity Score Index

pNN50

Square root of the mean of the sum of squares of differences between adjacent filtered RR intervals that are >50 ms for the whole analysis

QoL

Quality of life

QSART

Quantitative sudomotor axon reflex test

QST

Quantitative sensory testing

RR

Inter-beat

SDNN

Standard deviation of the normal beat to normal beat intervals over the length of the analysis

SDNN-i

Mean of the standard deviation of all of the filtered RR intervals for all of the 5 min segments of the analysis

SDANN-i

Standard deviation of the mean of all filtered RR intervals for all of the 5 min segments of the analysis

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Copyright information

© Springer Netherlands 2010

Authors and Affiliations

  1. 1.Department of PaediatricsAddenbrooke’s HospitalCambridgeUK

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