Renal

Renal failure (along with heart disease and stroke) is one of the main causes of death in patients with Fabry disease.1,2 Renal abnormalities are together referred to as Fabry nephropathy and include:3

  • Proteinuria
  • Hematuria
  • Reduced renal function
  • Renal Cysts9
  • Chronic kidney failure
fabry disease renal symptoms graphical image

Studies have shown that a reduced glomerular filtration rate (GFR) occurs early in life in a significant proportion of children, in many females, and in almost all male patients with Fabry disease.4 Fabry disease must be considered in all cases of nephropathy where urine protein and/or albumin levels are above normal values and no other cause has been identified; and/or when a decrease in renal function with estimated GFR <60 ml/min/1.73 m2 is observed.5 In untreated Fabry disease, end-stage renal disease typically occurs in patients of >30 years of age;3 however, it is rare in female or pediatric patients compared with male patients.1

Stages of chronic kidney disease.8

StageDescriptionGFR
1Kidney damage with normal or ↑ GFR≥90
2Kidney damage with mild ↓ GFR60–89
3Moderate ↓ GFR30–59
4Severe ↓ GFR15–29
5Kidney failure<15 or dialysis

The stages of chronic kidney disease are graded by GFR. A lower GFR is associated with more severe kidney disease. GFR, glomerular filtration rate

Table adapted from National Kidney Foundation, Am J Kidney Dis 2002;39:1–266
© 2002 Published by Elsevier Inc. All rights reserved.
http://www.sciencedirect.com/science/journal/02726386

View references

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