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
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
Stage | Description | GFR |
---|---|---|
1 | Kidney damage with normal or ↑ GFR | ≥90 |
2 | Kidney damage with mild ↓ GFR | 60–89 |
3 | Moderate ↓ GFR | 30–59 |
4 | Severe ↓ GFR | 15–29 |
5 | Kidney 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