Pediatric Fabry Disease

Ries, Markus; Gupta, Smriti; Moore, David F.; Sachdev, Vandana; Quirk, Jane M.; Murray, Gary J.; Rosing, Douglas R.; Robinson, C.; Schaefer, Ellen; Gal, Andreas; Dambrosia, James M.; Garman, S.C.; Brady, Roscoe O.; Schiffmann, Raphael

doi:10.1542/peds.2004-1678

Cited by 182 publications

(150 citation statements)

References 45 publications

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“…2,3 Another study compared HRQoL of boys with Fabry disease with controls. 17 Baehner et al 18 These studies comparing HRQoL between study subjects and control populations found statistically significant differences in HRQoL domains. Our study also found significant differences between controls and study subjects and is the largest study to date that compares HRQoL of heterozygous women to controls and chronic disease populations.…”

Section: Discussionmentioning

confidence: 99%

Comparison of health-related quality of life between heterozygous women with Fabry disease, a healthy control population, and patients with other chronic disease

Street

Bailey

et al. 2006

Genetics in Medicine

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Purpose: Fabry disease is an X-linked lysosomal disorder due to mutations in the GLA gene. Manifestations of the disease are documented in hemizygous males. Recent studies have indicated that women with GLA mutations may report symptoms. The impact on their health-related quality of life is unclear. This study compares the quality of life of obligate heterozygotes to a historical healthy control population and to populations with multiple sclerosis and rheumatoid arthritis. Methods: The RAND-36 and Fabry-disease specific questions were administered to study participants. Study subjects were obligate heterozygotes for mutations in GLA. Mean scores in each of the subscales from the RAND-36 were compared between study subjects and previously published data from the

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Section: Discussionmentioning

confidence: 99%

Comparison of health-related quality of life between heterozygous women with Fabry disease, a healthy control population, and patients with other chronic disease

Street

Bailey

et al. 2006

Genetics in Medicine

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“…It is elevated in most patients when measured in a random sample of whole urine or urine deposited on a filter paper (Whatman 903) (3,6,7). Urine levels are highest in patients with null mutations and no residual enzyme activity and lower in female heterozygotes and patients with significant residual ␣-galactosidase A activity (6,8,9). When measured in random samples of whole urine, Gb 3 may even be normal in some of these patients and in female heterozygotes (6).…”

Section: What Do We Know?mentioning

confidence: 99%

Biomarkers of Fabry Disease Nephropathy

Schiffmann¹,

Waldek²,

Benigni³

et al. 2010

Clinical Journal of the American Society of Nephrology

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It is suggested that biomarkers of renal complications of Fabry disease are likely to be useful for diagnosis and to follow the natural disease progression or the effect of specific therapeutic interventions. Traditionally, globotriaosylceramide (Gb 3 ) in urine has been used to evaluate the effect of specific therapy, such as enzyme replacement therapy (ERT). Although urinary Gb 3 decreases significantly with ERT, it has not yet been shown to be a valid surrogate marker in treatment trials. We propose a detailed study of the nature and origin of Gb 3 combined with a prospective collaborative trial that combines Gb 3 changes with the effect of ERT on clinical nephrological outcome measures. Existing biomarkers such as general proteinuria/ albuminuria or specific proteins such as N-acetyl-␤-D-glucosaminidase should be evaluated along with novel proteomic or metabolomic studies for biomarker discovery using mass spectrometry or nuclear magnetic resonance. Standard scoring of all pathologic aspects of kidney biopsies may also be a promising way to assess the effect of therapy.

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“…This causes accumulation of glycosphingolipids, particularly globotriaosylceramide (Gb3) in most cell types [2]. Clinical onset of the disease typically occurs during childhood or adolescence with recurrent episodes of severe acroparethesias associated with a small-fiber neuropathy [3], characteristic cutaneous lesions known as angiokeratomas and a distinctive, but asymptomatic, corneal dystrophy [3]. Vital organs are affected with increasing age by a systemic vasculopathy that is associated with progressive cerebrovascular, cardiac or renal complications and early death [4].…”

Section: Introductionmentioning

confidence: 99%

Cellular and tissue distribution of intravenously administered agalsidase alfa

Murray

Anver

Kennedy

et al. 2007

Molecular Genetics and Metabolism

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Abstractα-Galactosidase A is the lysosomal hydrolase that is deficient in patients with Fabry disease. Intravenous infusion of agalsidase alfa, a preparation of α-galactosidase A, is used for enzyme replacement therapy (ERT) in patients with Fabry disease. Although ERT appears to show some beneficial effects, most patients show only a modest response. We investigated using immunohistochemistry the relative tissue and cellular distribution of agalsidase alfa after a single intravenous injection in a mouse knockout model of Fabry disease. Specific immunostaining for agalsidase alfa was found only in liver, kidney, heart, testes, adrenal gland, spleen and bone marrow. There was no difference in distribution of the infused enzyme distribution among tissues sampled 4, 24, and 48 hours post-injection. The intracellular localization of immunopositivity varied considerably between organs with vascular endothelium being the most commonly positive site. α-Galactosidase A specific activity in tissue homogenates matched the relative extent of agalsidase alfa immunostaining distribution in the same organs. We conclude that intravenously injected agalsidase alfa has a very heterogeneous systemic distribution using an immunostaining technique.

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Pediatric Fabry Disease

Cited by 182 publications

References 45 publications

Comparison of health-related quality of life between heterozygous women with Fabry disease, a healthy control population, and patients with other chronic disease

Comparison of health-related quality of life between heterozygous women with Fabry disease, a healthy control population, and patients with other chronic disease

Biomarkers of Fabry Disease Nephropathy

Cellular and tissue distribution of intravenously administered agalsidase alfa

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