Enzyme Replacement Therapy by Renal Allotransplantation in Fabry's Disease

Clarke, Joe T.R.; Rd, Guttmann; Wolfe, L. S.; Beaudoin, J. G.; Morehouse, Douglas D.

doi:10.1056/nejm197212142872402

Cited by 74 publications

(29 citation statements)

References 23 publications

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“…Urinary Gb 3 has its origin mostly in kidney tubular cells of the kidney and urinary collecting system. These assumptions are based on the presence of Gb 3 in lysosomes of renal tubular cells shed in the urine and an 80% reduction in urinary Gb 3 after transplantation and nephrectomy (11)(12)(13). Dense accumulation of Gb 3 has been observed in podocytes from Fabry disease patients, which could be partially reversed by long-term enzyme replacement therapy (ERT).…”

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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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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“…But these treatments have not achieved stable clinical effects. Other attempts were made, including transplantation of kidney (Clarke et al 1972) and fetal liver (Touraine et al 1979). Long-term observation is necessary for deciding the feasibility of these methods.…”

Section: Discussionmentioning

confidence: 99%

“…To date, infusions of the purified enzyme (Brady et al 1973;Tsuji et al 1994) and plasma exchange (Pyeritz et al 1980) have been used as therapies for this disease, but, unfortunately, stable clinical effects have not been achieved. Other types of treatment have been attempted, including kidney transplantation (Clarke et al 1972) and fetal liver transplantation (Touraine et al 1979). Long-term observation is necessary for evaluating these treatments.…”

Section: Introductionmentioning

confidence: 99%

Enzymatic corrections for cells derived from Fabry disease patients by a recombinant adenovirus vector

et al. 2000

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Fabry disease is an X-linked inherited metabolic disorder caused by a deficiency of α-galactosidase (α-gal), resulting in the accumulation of ceramide trihexoside (CTH) in body fluids and in many organs and tissues. We constructed a recombinant adenovirus with a human α-gal cDNA (AxCAG α-gal), and transfected this vector to skin fibroblasts from Fabry patients. Transfected cells expressed high amounts of α-gal in their cytoplasm, and a high level of α-gal activity was detected in the medium. The accumulated CTH in the fibroblasts disappeared 3 days after infection. The secreted α-gal also eliminated the accumulated CTH from uninfected patient's cells. The enzyme may be taken up through mannose-6-phosphate receptors, as the addition of mannose-6-phosphate to the medium completely inhibited the uptake of the enzyme. The infected cells continued to express α-gal for more than 10 days. These results suggest that AxCAG α-gal could be used as enzyme replacement gene therapy for Fabry disease.

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“…With increasing age renal failure and a dilated cardiomyopathy can develop. Kidney transplantation successfully corrects renal insufficiency [1] and was regarded by some authors as a possible way for correcting not only renal insufficiency, but also the enzymatic deficiency by replacement of agalactosidase through the transplanted kidney [2,3]. We report a case of Fabry's disease in which the disease recurred in the transplanted kidney 14 years after successful renal transplantation.…”

Section: Introductionmentioning

confidence: 95%

Recurrence of Fabry's disease in a renal allograft 14 years after transplantation

1995

Nephrology Dialysis Transplantation

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Enzyme Replacement Therapy by Renal Allotransplantation in Fabry's Disease

Cited by 74 publications

References 23 publications

Biomarkers of Fabry Disease Nephropathy

Biomarkers of Fabry Disease Nephropathy

Enzymatic corrections for cells derived from Fabry disease patients by a recombinant adenovirus vector

Recurrence of Fabry's disease in a renal allograft 14 years after transplantation

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