Long-term Outcomes of Kidney Transplantation in Fabry Disease.

Ersözlü, Sara; Desnick, Robert J; Huynh-Do, Uyen; Canaan-Kühl, Sima; Barbey, Frédéric; Genitsch, Vera; Mueller, Thomas F; Cheetham, Marcus; Flammer, Andreas J; Schaub, Stefan; Nowak, Albina (2018). Long-term Outcomes of Kidney Transplantation in Fabry Disease. Transplantation, 102(11), pp. 1924-1933. Wolters Kluwer Health 10.1097/TP.0000000000002252

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BACKGROUND Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by mutations in the α-galactosidase A gene that obliterate or markedly reduce α-galactosidase A activity. This results in the systemic accumulation of its glycosphingolipid substrates in body fluids and organs, including the kidney. Fabry nephropathy can lead to end-stage renal disease requiring kidney transplantation. Little is known about its long-term outcomes and the overall patient survival after kidney transplantation. METHODS Here, we report 17 Fabry patients (15 male and 2 female subjects) who received kidney transplants and their long-term treatment and follow-up at 4 specialized Fabry centers. RESULTS The posttransplant follow-up ranged to 25 years, with a median of 11.5 (range, 0.8-25.5] years. Graft survival was similar, and death-censored graft survival was superior to matched controls. Fabry patients died with functioning kidneys, mostly from cardiac causes. In 2 male subjects 14 and 23 years posttransplant, the grafts had a few typical FD lamellar inclusions, presumably originating from invading host macrophages and vascular endothelial cells. CONCLUSIONS We conclude that kidney transplantation has an excellent long-term outcome in FD.

Item Type:

Journal Article (Original Article)

Division/Institute:

04 Faculty of Medicine > Service Sector > Institute of Pathology
04 Faculty of Medicine > Department of Dermatology, Urology, Rheumatology, Nephrology, Osteoporosis (DURN) > Clinic of Nephrology and Hypertension
04 Faculty of Medicine > Department of Cardiovascular Disorders (DHGE) > Clinic of Cardiology

UniBE Contributor:

Ersözlü, Sara; Huynh-Do, Uyen and Genitsch Gratwohl, Vera

Subjects:

500 Science > 570 Life sciences; biology
600 Technology > 610 Medicine & health

ISSN:

0041-1337

Publisher:

Wolters Kluwer Health

Language:

English

Submitter:

Uyen Huynh-Do

Date Deposited:

17 Sep 2019 13:40

Last Modified:

01 Dec 2019 02:32

Publisher DOI:

10.1097/TP.0000000000002252

PubMed ID:

29688992

BORIS DOI:

10.7892/boris.131735

URI:

https://boris.unibe.ch/id/eprint/131735

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