Assessment of renal pathology and dysfunction in children with Fabry disease.

Overt renal disease often first presents in male individuals with Fabry disease in early to middle adulthood, but proteinuria and reduced GFR may occur in adolescents and in young children. More recently, kidney biopsy data have shown early renal histologic changes in pediatric patients, and kidney dysfunction, primarily proteinuria, seems to be more common in girls. Renal investigations and their timing in children remain poorly defined.

Ear symptoms in children with Fabry disease: data from the Fabry Outcome Survey.

Background: Hearing loss and tinnitus are common symptoms in Fabry disease and increase in prevalence with age. This study aimed to provide an epidemiological description of hearing impairment and tinnitus in children with Fabry disease in the Fabry Outcome Survey (FOS), an international database to assess the natural history of Fabry disease and the efficacy of enzyme replacement therapy with agalsidase alpha.

Methods: Signs and symptoms questionnaires were completed for 543 children with Fabry disease.

Enzyme replacement therapy with agalsidase alfa in children with Fabry disease.

Aim: To assess the effects of enzyme replacement therapy (ERT) in children with Fabry disease.

Methods: Safety and efficacy of ERT with agalsidase alfa, 0.2 mg/kg infused over 40 minutes every 2 weeks for 23 weeks, were studied in a multicentre open-label trial in nine boys and four girls.