Anderson-Fabry disease (AFd) is a rare X-linked disorder characterized by deficiency of α-galactosidase A that leads to systemic accumulation of neutral glycosphingolipids, predominantly globotriaosylceramide (Gb3), in body fluids and visceral tissues, including the kidney. End-stage renal failure is a common manifestation in hemizygous males that often occurs by the third to fourth decade of life. Usually transplanted patients exhibit improvement in clinical symptoms of the disease, probably related to the production of α-galactosidase A from the grafted kidney, but mainly related to the increase in Gb3 clearance by the functioning kidney, and increased survival of red cells due to the correction of the uremic status with an evident decrease in the production of Gb3 depending from hemolysis. Several Fabry patients with successful kidney graft survived for 10–15 years and died for cardiovascular complications related to the metabolic disease. The loss of grafted kidney is due to rejection, thrombosis or sepsis. An important issue considering renal transplantation in AFd is the recurrence of the disease in the kidney graft; however, no evidence regarding this possibility has occurred up to now. We report herein the ultrastructural study of the urinary sediment of a 35-year-old male Fabry patient with a severe clinical form of the disease with progression to ESRF at age 29, and submitted to renal transplantation at 33 years. Ultrastructural findings of the urinary sediment documented several cells, probably tubular epithelial cells, with typical accumulation of myelinic bodies resulting from intracellular storage of neutral glycosphingolipids. This morphological evidence arises the problem of the possible recurrence of AFd in the kidney graft in patients with severe phenotype of the metabolic disease.

Desnick RJ, Ioannou YA, Eng CM: Alpha galactosidase A deficiency: Fabry disease; in Scriver CR, Beaudet AL, Sly WS, Valle D (eds): The metabolic and molecular bases of inherited diseases, ed 7. New York, McGraw-Hill, 1995, p 2741–2784.
Buhler FR, Thiel G, Dubach UC, Enderlin F, Gloor F, Tholen H: Kidney transplantation in Fabry’s disease. Br Med J 1973;2:28–29.
Maizel SE, Simmons RL, Kjellstrand C, Fryd DS: Ten years experience in renal transplantation for Fabry’s disease. Transplant Proc 1981;13:57–59.
Advisory Committee to the Renal Transplant Registry: Renal transplantation in congenital and metabolic diseases. JAMA 1975;232:148–153.
Donati D, Novario R, Gastaldi L: Natural history and treatment of uremia secondary to Fabry’s disease: an European experience. Nephron 1987;46:353–359.
Mosnier JF, Degott C, Bedrossian J, Molas G, Degos F, Pruna A, Potet F: Recurrence of Fabry’s disease in a renal allograft eleven years after successful renal transplantation. Transplantation 1991;51:759–762.
Ojo A, Meier-Kriesche HU, Friedman G, Hanson J, Cibrik D, Leichtman A, Kaplan B: Excellent outcome of renal transplantation in patients with Fabry’s disease. Transplantation 2000;69:2337–2339.
Friedlaender MM, Kopolovic J, Rubinger D, Silver J, Drukker A, Ben-Gershon Z, Durst AL, Popovtzer MM: Renal biopsy in Fabry’s disease eight years after successful renal transplantation. Clin Nephrol 1987;27:206–211.
Schweitzer EJ, Drachenberg CB, Bartlett ST: Living kideny donor and recipient evaluation in Fabry’s disease. Transplantation 1992;54:924–927.
Kramer W, Thormann J, Mueller K, Frenzeel H: Progressive cardiac involvement by Fabry’s disease despite successful renal allotransplantation. Int J Cardiol 1985;7:72–75.
Gantenbein H, Bruder E, Burger HR, Briner J, Binswanger U: Recurrence of Fabry’s disease in a renal allograft 14 years after transplantation. Nephrol Dial Transplant 1995;10:287–289.
Friedman GS, Wik D, Silva L, Abdou JC, Meier-Kriesche HU, Kaplan B, et al: Allograft loss in renal transplant recipients with Fabry’s disease and activated protein C resistance. Transplantation 2000;69:2099–2107.
Meroni M, Spisni C, Tazzari S, Di Vito R, Stingone A, Bovan I, Torri Tarelli L, Sessa A: Isolated glomerular proteinuria as the only clinical manifestation of Fabry’s disease in an adult male. Nephrol Dial Transpl 1997;12:221–223.
Faraggiana T, Churg J, Grishman E, Strauss L, Prado A, Bishop DF, Schuchman E, Desnik RJ: Light- and electron-microscopic histochemistry of Fabry’s disease. Am J Pathol 1981;103:247–262.
Popli S, Molnar ZV, Leehey DH, Daugirdas JT, Roth DA, Adams MB, Cheng JC, Ing TS: Involvement of renal allograft by Fabry’s disease. Am J Nephrol 1987;7:316–318.
Gubler MC, Lenoir G, Grünfeld JP, Ulmann A, Droz D, Habib R: Early renal changes in hemizygous and heterozygous patients with Fabry’s disease. Kidney Int 1978;13:223–235.
Desnick RJ, Ioannou YA, Eng CM: Fabry disease: Preclinical and clinical studies of α-galactosidase A replacement therapy. 5th International Symposium on Mucopolysaccharide and Related Diseases. Vienna 1999;18–21.
Schifmann R, Murray GJ, Treco D, Daniel P, Sellos-Moura M, et al: Infusion of α-galactosidase A reduces tissue globotriaosylceramide storage in patients with Fabry disease. Proc Natl Acad Sci USA 2000;97:365–370.
Copyright / Drug Dosage / Disclaimer
Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher.
Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in government regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug.
Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.
You do not currently have access to this content.