Table 2 Clinical, demographic, genetic and histological features of the cohort.

From: Zebra bodies recognition by artificial intelligence (ZEBRA): a computational tool for Fabry nephropathy

 

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

-

  1. **1 case for each type of mutation (c.1091_1092del; c.272T > C; c.658 C > T; c.667T > G; c.704 C > G; c.73delG; c.886 A > T; c599_560 del AT).
  2. **1 case each for Thrombotic Microangiopathy, Fibrillary Glomerulonephritis (DNAJB positive) and Proliferative glomerulonephritis with monoclonal immunoglobulin deposits (PGMID).