Table 2 Clinical, demographic, genetic and histological features of the cohort.
Fabry (n = 37) | Controls (n = 40) | p value | |
|---|---|---|---|
Clinical and laboratory data | |||
Sex (F, n and %) | 19 (51%) | 12 (30%) | - |
Age (median and IQR) | 46 [33–55] | 52 [32–63] | - |
Serum Creatinine (mg/dl, median and IQR) | 0.83 [0.70–0.98] | 1.2 [0.83–1.60] | 0.38 |
eGFR (ml/min/1.73 m2, median and IQR) | 98 [76–110] | 69 [44–95] | < 0.001 |
Proteinuria (g/die, median and IQR) | 0.2 [0.11–0.33] | 1.28 [0.36–3.43] | < 0.001 |
Fabry phenotype (LO, n and %) | 27 (73%) | - | - |
GLA mutation (n and %) | |||
c.644 A > G | 15 (41%) | - | - |
c.1066 C > T | 8 (22%) | - | - |
c.1121_1123delAAG | 2 (5%) | - | - |
c.4 C > T | 2 (5%) | - | - |
c.902G > C | 2 (5%) | - | - |
Other* | 8 (22%) | - | - |
Histological data (median and IQR) | |||
N of glomeruli | 15 [8–22] | 11 [9–17] | 0.28 |
N of globally sclerosed glomeruli | 1 [0–2] | 2 [0–3] | 0.28 |
N of segmentally sclerosed glomeruli | 0 | 0 [0–1] | 0.1 |
IFTA (%) | 5 [5–5] | 10 [5–20] | 0.01 |
Mean vacuolization podocyte score | 1.18 [0.89–2.05] | - | - |
Final diagnosis (n) | |||
Fabry nephropathy | 37 | - | - |
IgA nephropathy | - | 12 | - |
Minimal Change Disease | - | 6 | - |
Membranous nephropathy | - | 4 | - |
Arterionephrosclerosis | - | 6 | - |
Minimal histological abnormalities | - | 5 | - |
Focal & segmental glomerulosclerosis | - | 4 | - |
Other** | - | 3 | - |