End-stage renal disease in patients with Fabry disease: natural history data from the Fabry Registry.
BACKGROUND
Fabry disease, an X-linked lysosomal storage disorder caused by deficiency of alpha-galactosidase activity, is associated with progressive loss of kidney function. This study was undertaken to characterize Fabry disease among patients who reached end-stage renal disease.


METHODS
Data from 2,712 patients in the Fabry Registry were analysed to identify clinical characteristics of patients who received renal replacement therapy (RRT) during the natural history period (i.e. prior to any enzyme replacement therapy).


RESULTS
A total of 213 patients [186 of 1,359 males (14%) and 27 of 1,353 females (2%)] received RRT at a median age of 38 years in both males and females. Males who received RRT were diagnosed at a median age of 35 years, compared to 23 years for non-RRT males. Sixty-one males and 10 females were not diagnosed with Fabry disease until after they had received RRT. Compared to other Fabry Registry patients, a higher percentage of RRT patients also experienced either a serious cardiovascular event or a stroke. Ninety-two of 186 males who had RRT (50%) experienced a cardiac event or stroke, compared to 230 of 1,173 non-RRT males (20%). Ten of 27 RRT females (37%) had experienced a cardiac event or stroke, compared to 226 of 1,326 non-RRT females (17%). Patients who had RRT experienced cardiovascular events and strokes at earlier ages than did patients who had not received RRT, and most received RRT before having a cardiac event or stroke.


CONCLUSIONS
While all Fabry patients are at risk of cardiovascular events and strokes, patients with Fabry nephropathy who develop kidney failure appear to have concurrent involvement of other major organ systems. It is important that Fabry patients are diagnosed early and that their renal function is monitored carefully.
Ortiz
Alberto
A
Unidad de Dialisis, Fundación Jiménez Díaz, Universidad Autonoma de Madrid, Madrid, Spain. aortiz@fjd.es
Cianciaruso
Bruno
B
Cizmarik
Marta
M
Germain
Dominique P
DP
Mignani
Renzo
R
Oliveira
João Paulo
JP
Villalobos
Jacobo
J
Vujkovac
Bojan
B
Waldek
Stephen
S
Wanner
Christoph
C
Warnock
David G
DG
D000293:Adolescent; D000328:Adult; D000367:Age Factors; D000368:Aged; D002318:Cardiovascular Diseases / Q000453:epidemiology*; D018450:Disease Progression; D056947:Enzyme Replacement Therapy; D000795:Fabry Disease / Q000150:complications* / Q000188:drug therapy; D005260:Female; D006801:Humans; D007676:Kidney Failure, Chronic / Q000453:epidemiology* / Q000628:therapy; D008297:Male; D008875:Middle Aged; D012042:Registries; D017582:Renal Replacement Therapy; D012189:Retrospective Studies; D012307:Risk Factors; D020521:Stroke / Q000453:epidemiology*; D055815:Young Adult; D000519:alpha-Galactosidase / Q000627:therapeutic use
D000519:alpha-Galactosidase