Table 5.
Summary information for patients with Fabry nephropathy who developed end-stage renal diseasea
| Males | Females | |
|---|---|---|
| ESRD patients (n) | 49 | 8 |
| Age at ESRD (years) | ||
| Mean (SD) | 39.5 (9.6) | 42.4 (11.7) |
| Median | 39.5 | 41.3 |
| Range | 18.0–58.0 | 29.5–65.9 |
| Baseline eGFR (ml/min/1.73 m2), n | 32 | 6 |
| Mean (SD) | 40.9 (30.8) | 22.3 (22.8) |
| Median | 34.1 | 12.9 |
| Range | 38–110 | 1.5–53.5 |
| Age at baseline eGFR (years) | ||
| Mean (SD) | 37.8 (8.9) | 42.0 (11.3) |
| Median | 39.6 | 41.9 |
| Range | 19.9–52.6 | 29.5–61.7 |
| Urinary proteinb (g/24 h), n | 10 | 3 |
| Mean (SD) | 3.0 (2.7) | 2.1 (2.0) |
| Median | 2.3 | 1.4 |
| Range | 0.1–8.7 | 0.5–4.3 |
| Overt proteinuriac, n (%) | 9 (90) | 3 (100) |
| Age at baseline urinary protein (years) | ||
| Mean (SD) | 34.3 (10.0) | 46.2 (14.5) |
| Median | 32.6 | 43.2 |
| Range | 19.9–48.8 | 33.4–61.9 |
| Genotypes | ||
| Patients with genotypesd, n | 36 | 5 |
| Missense, n (%) | 19 (52.8) | 3 (60.0) |
| Non-sense, n (%) | 8 (22.2) | 1 (20.0) |
| Splicing defect, n (%) | 3 (8.3) | 1 (20.0) |
| Complex, deletion, insertion, or frameshift, n (%) | 6 (16.7) | 0 |
SD, standard deviation; eGFR, estimated glomerural filtration rate; ESRD, end-stage renal disease.
aSerum creatinine ≥6 mg/dl (530 μmol/l) or chronic dialysis or transplantation.
bUrinary protein assessment is the closest reading within ± 1 year of baseline eGFR assessment.
cOvert proteinuria defined as >0.3 g protein in 24-h urine collection.
dOf the 16 patients without genotypes, 3 males had leukocyte α-GalA activity of 2, 7 and 16.4 nmol/h/mg, 2 (1 male and 1 female, respectively) had plasma α-GalA activity of 0.47 and 3.8 nmol/h/ml, and 8 other patients (7 males and 1 female) had reported a family history of Fabry disease.