Enzyme replacement therapy with agalsidase beta in kidney transplant patients with Fabry disease: A pilot study

Mignani, Renzo; Panichi, Vincenzo; Giudicissi, A.; Taccola, D; Boscaro, Francesca; Feletti, C; Moneti, Gloriano; Cagnoli, L

doi:10.1111/j.1523-1755.2004.00514.x

Cited by 50 publications

(40 citation statements)

References 19 publications

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“…However, proteinuria does not seem to be improved (40). Studies in kidney transplanted patients show that ERT is safe and effective to reduce the progression of extra-renal manifestations of Fabry disease (41,42). A benefit on cardiac disease has been also reported, with a reduction in left ventricular mass in patients with left ventricular hypertrophy (43).…”

Section: Heterozygotesmentioning

confidence: 90%

Fabry Disease: Treatment and diagnosis

Rozenfeld

2009

IUBMB Life

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SummaryFabry disease is an X-linked lysosomal disorder that results from a deficiency of the lysosomal enzyme a-galactosidase A leading to accumulation of glycolipids, mainly globotriaosylceramide in the cells from different tissues. Classical Fabry disease affects various organs. Clinical manifestations start at early age and include angiokeratoma, acroparesthesia, hypohydrosis, heat/exercise intolerance, gastrointestinal pain, diarrhea, and fever. The main complications of Fabry disease are more prominent after the age of 30 when kidney, heart, and/or cerebrovascular disorders appear. Most of the heterozygous females are symptomatic. Enzyme replacement therapy (ERT) is the only specific treatment for Fabry disease. The beneficial effect of ERT on different organs/systems has been extensively evaluated. Quality of life of patients receiving ERT is improved. Enzyme replacement stabilizes or slows the decline in renal function and reduces left ventricular hypertrophy. Fabry disease may be underdiagnosed because of nonspecific and multiorgan symptoms. Different screening strategies have been carried out in different at-risk populations in order to detect undiagnosed Fabry patients. An increasing knowledge about Fabry disease within the medical community increases the chances of patients to receive a timely diagnosis and, consequently, to access the appropriate therapy.

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Section: Heterozygotesmentioning

confidence: 90%

Fabry Disease: Treatment and diagnosis

Rozenfeld

2009

IUBMB Life

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“…Nevertheless, late recurrence of Fabry nephropathy in the renal allograft has been described before the ERT era, although it does not significantly impacts on the long-term allograft survival (13). On the other hand, a recent pilot study suggests that agalsidase beta treatment is safe and may prevent some extra-renal complications such as cardiac hypertrophy and acroparesthesia, in kidney transplant recipients with FD (14).…”

Section: Discussionmentioning

confidence: 99%

Combined Heart and Kidney Transplantation in a Patient with Fabry Disease in the Enzyme Replacement Therapy Era

Karras

Lentdecker

Delahousse

et al. 2008

American Journal of Transplantation

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Fabry disease (FD) is an X-linked genetic disease, resulting from the deficiency of alpha-galactosidase A, a lysosomal enzyme responsible for the cleavage of glycosphingolipids. In absence of enzyme replacement therapy (ERT), globotriaosylceramide (Gb3) accumulates in tissue, leading to progressive organ damage with severe renal, cardiac and central nervous system complications.We herein describe the first case of successful combined and simultaneous heart and kidney transplantation in a young male patient with FD complicated by end-stage renal disease and severe heart failure not responding to late-onset ERT.Combined heart and kidney transplantation can be recommended for Fabry patients with end-stage renal disease and overt hypertrophic cardiomyopathy, severe ischemic or valvular heart disease.

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“…À noter que nous avons traité deux patients greffés rénaux, avec l'objectif d'une protection des autres organes. Notre expérience confirme la parfaite faisabilité de l'enzymothérapie chez les greffés déjà démontrée dans une étude récente [4]. Ce point est d'autant plus important que les patients atteints de maladie de Fabry ont de bons résultats en greffe de rein [5].…”

Section: Discussionunclassified

Enzymothérapie substitutive chez neuf patients atteints de la maladie de Fabry

Alamartine

2005

Med Sci (Paris)

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Enzyme replacement therapy with agalsidase beta in kidney transplant patients with Fabry disease: A pilot study

Cited by 50 publications

References 19 publications

Fabry Disease: Treatment and diagnosis

Fabry Disease: Treatment and diagnosis

Combined Heart and Kidney Transplantation in a Patient with Fabry Disease in the Enzyme Replacement Therapy Era

Enzymothérapie substitutive chez neuf patients atteints de la maladie de Fabry

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