Abstract | BACKGROUND: METHODS: Three male kidney transplant recipients with biochemically, genetically, and histologically confirmed Fabry disease and documented Fabry myocardiopathy received the rh-alpha-Gal A, agalsidase beta, 1 mg/kg of body weight every 2 weeks by intravenous infusion and were monitored biochemically, clinically, and electrocardiographically and echocardiographically for 18 months. RESULTS: Patients showed biochemical, clinical/functional, and morphologic response to ERT. Plasma globotriaosylceramide decreased 23% to 50%. Extremity pain resolved within 2 months in the patient with this manifestation. On echocardiography, left ventricular mass, end diastolic diameter (EDD), and cardiac contractility, shown by ejection fraction (EF), improved in 2 of the 3 patients receiving essentially all planned infusions. EDD and EF remained basically stable, but cardiac morphologic abnormalities progressed in the other patient, who had a 5-month interruption in ERT after the initial month. Mild mitral insufficiency persisted in all patients, as did atrial fibrillation in the affected individual. After a combined total of 116 infusions, no treatment-related adverse event, intolerance, or seroconversion was seen. Renal function remained stable and the immunosuppression regimen unchanged in all patients. CONCLUSION: Our pilot study provides preliminary evidence that ERT with agalsidase beta, 1 mg/kg every 2 weeks, is safe and often effective against extra-renal manifestations in kidney transplant patients with Fabry disease. Studies with longer courses of this and higher doses of ERT are merited in this population.
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Authors | Renzo Mignani, Vincenzo Panichi, Antonio Giudicissi, Daniele Taccola, Francesca Boscaro, Carlo Feletti, Gloriano Moneti, Leonardo Cagnoli |
Journal | Kidney international
(Kidney Int)
Vol. 65
Issue 4
Pg. 1381-5
(Apr 2004)
ISSN: 0085-2538 [Print] United States |
PMID | 15086478
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- Isoenzymes
- Recombinant Proteins
- Trihexosylceramides
- globotriaosylceramide
- alpha-Galactosidase
- agalsidase beta
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Topics |
- Adult
- Atrial Fibrillation
(etiology, physiopathology)
- Echocardiography
- Electrocardiography
- Extremities
- Fabry Disease
(complications, diagnosis, drug therapy, surgery)
- Heart
(drug effects, physiopathology)
- Humans
- Isoenzymes
(therapeutic use)
- Kidney Transplantation
- Male
- Middle Aged
- Mitral Valve Insufficiency
(etiology, physiopathology)
- Pain
(physiopathology)
- Pilot Projects
- Recombinant Proteins
(therapeutic use)
- Treatment Outcome
- Trihexosylceramides
(blood)
- alpha-Galactosidase
(therapeutic use)
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