Table 1. Clinical and genetic features of the Fabry patients.
Patient no. | Age at inclusion | Sex | Mutation | Cerebro-vascular disease before inclusion | Cerebro-vascular disease during study | Cardio-vascular disease before inclusion | Cardio-vascular disease during study | Renal event before inclusion | Renal event during study | ERT |
---|---|---|---|---|---|---|---|---|---|---|
1 | 36 | M | R342X | - | - | - | - | - | - | + |
2 | 10 | M | G85D | - | - | - | - | - | - | + |
3 | 60 | F | A156T | + | - | U | + | - | - | + |
4 | 37 | M | A156T | + | - | - | + | D | KT | + |
5 | 63 | F | A156T | - | - | + | - | - | - | + |
6 | 58 | F | A156T | + | - | + | + | - | - | + |
7 | 41 | F | A156T | - | - | - | + | - | - | + |
8 | 38 | F | G85D | - | - | - | - | - | - | + |
9 | 42 | F | A156T | - | + | - | - | - | - | + |
10 | 37 | M | A156T | - | - | - | - | - | - | + |
11 | 15 | M | N34S | - | - | - | - | - | - | + |
12 | 15 | F | A156T | - | - | - | - | - | - | + |
13 | 33 | F | A156T | - | - | + | - | - | - | - |
14 | 27 | F | G85D | + | - | - | - | - | - | + |
15 | 34 | F | N34S | + | - | - | - | - | - | + |
16 | 54 | F | A156T | - | - | + | - | - | - | + |
17 | 34 | M | G85D | - | - | - | - | - | - | + |
18 | 18 | M | N34S | - | - | - | - | - | - | + |
19 | 59 | F | G85D | + | - | - | + | - | - | + |
20 | 48 | F | N34S | - | - | + | - | - | - | + |
21 | 55 | F | G85D | - | - | - | + | - | - | + |
22 | 35 | M | G85D | - | - | - | - | - | D, KT | + |
23 | 24 | M | N34S | - | - | - | - | - | - | + |
24 | 58 | F | G85D | + | - | + | - | - | - | + |
25 | 58 | F | G85D | - | + | - | - | - | - | + |
26 | 26 | M | G85D | - | - | - | - | - | - | + |
27 | 39 | F | G85D | - | - | - | - | - | - | - |
28 | 33 | F | G85D | - | - | - | - | - | - | + |
29 | 18 | F | c.369+3_c.547 | - | - | - | - | - | - | + |
30 | 50 | F | G10694 | - | - | - | - | - | - | + |
31 | 47 | M | G10694 | - | - | - | - | - | - | + |
32 | 40 | F | G85D | - | - | - | - | - | - | + |
33 | 66 | F | G271S | + | - | + | - | - | - | + |
34 | 29 | M | G85D | - | - | - | - | D, KT | - | - |
35 | 35 | M | N34S | - | - | - | - | - | - | - |
36 | 44 | F | D313Y | - | - | - | - | - | - | - |
37 | 39 | F | G271S + D313Y | - | - | - | - | - | - | - * |
38 | 40 | F | A156T | - | - | - | - | - | - | - |
39 | 64 | F | I232T | - | - | - | - | - | - | - |
40 | 36 | M | I232T | - | - | - | - | - | - | + |
“+” yes
“-”no
*Chaparone-therapy.
ERT: Enzyme replacement treatment
Cerebrovascular disease: Infarct or hemorrhage
Cardiovascular disease: Arrhythmia, congestive heart failure or myocardial infarction
Renal event: Dialysis (D) or kidney transplantation (KT)
Unknown: U