We have no conflicts of interest to declare.
Fabry disease in children: agalsidase-beta enzyme replacement therapy
Article first published online: 27 SEP 2012
© 2012 John Wiley & Sons A/S
Volume 83, Issue 5, pages 432–438, May 2013
How to Cite
Fabry disease in children: agalsidase-beta enzyme replacement therapy., , , , .
- Issue published online: 5 APR 2013
- Article first published online: 27 SEP 2012
- Accepted manuscript online: 6 AUG 2012 12:57PM EST
- Manuscript Revised: 2 AUG 2012
- Manuscript Accepted: 2 AUG 2012
- Manuscript Received: 13 JUN 2012
- Arvid Nilsson'd Fund
- enzyme replacement therapy;
Fabry disease is a rare, multiorgan disease. The most serious complications involve the kidney, brain and heart. This study aims to assess the effect of enzyme replacement therapy (ERT) using agalsidase-beta in children with Fabry disease. We carried out a nationwide, descriptive and observational retrospective cohort study of 10 children (9–16 years at baseline), who underwent regular systematic investigations for 1–8 years after initiation of ERT with agalsidase-beta (Fabryzyme®, Genzyme). Ophthalmological, echocardiographic abnormalities and hypohidrosis were found at baseline and during the follow-up period. Serious kidney, heart or brain involvement had not developed at the last follow-up examination. For the majority of the patients improvements were found concerning headache, acroparaesthesias and gastrointestinal pain during the follow-up period. The level of energy and physical activity also increased. Treatment with agalsidase-beta was associated with a reduction of neuropathic and abdominal pain and headache. Although all aspects of the Fabry pain phenotype cannot be treated with ERT, the observed effects were clinically significant in the lives of the majority of Fabry children and together with the absence of serious Fabry manifestations at last follow-up, we argue that early initiation of ERT may be considered.