Table 1 Patients with definitive diagnosis of Fabry Disease. Age at diagnosis is indicated. M: hemizygous men F: heterozygous females. Activity of ɑ-Gal A is expressed in μmol/Lh. FS: family study; X: not indicated, NM. not measured; Symptoms 1: Renal Failure 2: Ventricular Hypertrophy; 3: Acroparesthesia, 4: Angiokeratome; 5: Cardiomegaly; 6:Fabry facies; 7: Hernia; 8: Hypohidrosis; 9: Intolerance to heat or cold; 10: Neuropathic pain; 11: Corneal clouding; 12: Stroke in the young, 13: Hypertrophic, myocardiopathy
From: Fabry disease in the Spanish population: observational study with detection of 77 patients
Code | Age | Sex | Medical Department | Symptoms | É‘-Gal A Activity | Mutation | Reference |
|---|---|---|---|---|---|---|---|
1 | 52 | M | Nephrology | 1, 2,13 | 0.59 ± 0.14 | c.613C > T; p.Pro205Ser | [35] |
2 | 30 | M | FS | 0.76 ± 0.43 | |||
3 | 46 | F | FS | 2.97 ± 0.16 | |||
4 | 25 | M | FS | 1.27 ± 0.06 | |||
5 | 56 | F | FS | 3.33 ± 0.33 | |||
6 | 47 | F | FS | 4.36 ± 1.58 | |||
7 | 76 | F | FS | 1.83 ± 0.24 | |||
8 | 55 | F | FS | 2.24 ± 0.02 | |||
9 | 24 | F | FS | 1.82 ± 0.38 | |||
10 | 22 | F | FS | 0.58 ± 0.37 | |||
11 | 29 | M | FS | 1.04 ± 0.07 | |||
12 | 62 | F | FS | 4.40 ± 0.03 | |||
13 | 44 | F | FS | 3.67 ± 1.45 | |||
14 | 60 | M | FS | 0.28 ± 0.11 | |||
15 | 82 | F | FS | 6.41 ± 0.01 | |||
16 | 21 | M | FS | 1.04 ± 0.61 | |||
17 | 34 | M | FS | 0.48 ± 0.28 | |||
18 | 0.5 | F | FS | 3.7 ± 1.73 | |||
19 | 8 | M | Genetics | FS | 0.92 ± 0.1 | c.713G > A; p.Ser238Asn | [4] |
20 | 12 | M | FS | 1.2 ± 1.81 | |||
21 | 57 | M | FS | 1.12 ± 0.12 | |||
22 | X | F | FS | 3.76 ± 0.36 | |||
23 | 52 | F | FS | 2.47 ± 0.22 | |||
24 | 31 | F | FS | 2.54 ± 0.05 | |||
25 | 39 | F | Pediatrics | FS | 4.98 | ||
26 | 2 | F | FS | 1.30 | |||
27 | 4 | M | FS | 0.69 | |||
28 | 74 | M | Cardiology | 2, FS | 0.58 ± 0.38 | ||
29 | 49 | F | 2,3 | 1.01 ± 0.34 | |||
30 | 52 | M | 2, FS | 0.56 ± 0.25 | |||
31 | 15 | F | FS | 4.68 ± 0.30 | |||
32 | X | F | FS | 4.61 ± 0.42 | |||
33 | 10 | F | Nephrology | FS | 4.75 ± 0.11 | ||
34 | 39 | M | FS | 1.35 ± 0.01 | |||
35 | 70 | M | FS | 1.48 ± 0.56 | |||
36 | 64 | M | FS | 1.89 ± 0.65 | |||
37 | 21 | M | FS | 1.45 ± 0.7 | |||
38 | 17 | F | FS | NM | |||
39 | X | M | FS | 1.67 ± 0.12 | |||
40 | 38 | M | FS | 1.20 ± 0.10 | |||
41 | 56 | F | FS | 2.4 ± 0.07 | |||
42 | 62 | F | FS | 4.9 ± 1.16 | |||
43 | 30 | M | Internal Medicine | 2,4,6,10 | 1.27 ± 0.10 | c.836A > G; p.Gln279Arg | [36] |
44 | 28 | M | 2,10 | 0.92 ± 0.2 | |||
45 | 51 | F | 2,4,6,10 | 4.02 ± 0.01 | |||
46 | 26 | M | FS | 1.5 ± 0.74 | |||
47 | 53 | M | 2 | 1.98 ± 0.44 | |||
48 | 48 | F | FS | 3.13 ± 0.32 | |||
49 | 48 | F | 2 | 7.45 ± 0.36 | |||
50 | 23 | F | FS | 7.13 ± 0.56 | |||
51 | 22 | M | Internal Medicine | 3,4,5,6,7,8,9,10 | 0.75 ± 0.05 | c.422C > T; p.Thr141Ile | [37] |
52 | 55 | F | 2,4,5 | 1.01 ± 0.01 | |||
53 | 53 | M | 3,4,5,9,10 | 2.25 ± 0.06 | |||
54 | 48 | M | Cardiology | 2 | 1.05 ± 0.54 | c.679C > T; p.Arg227* | [38] |
55 | 48 | M | 1,2 | 0.86 ± 0.19 | |||
56 | 46 | M | Cardiology | 2 | 1.19 ± 0.05 | c.242G > C; p.Trp81Ser | [36] |
57 | 13 | F | Internal Medicine | 3 | 1.48 ± 0.3 | c.242G > C; p.Trp81Ser | [36] |
58 | 12 | F | Nephrology | FS | 3.16 ± 0.2 | c.1232G > A; p.Gly411Asp | [39] |
59 | 65 | F | FS | 5.95 ± 1.25 | |||
60 | 27 | M | Nephrology | 1,6,10 | 0.94 ± 0.3 | c.778G > A; p.Gly260Arg | Not described |
61 | 59 | F | 12 | 3.58 ± 0.59 | |||
62 | 53 | M | Neurology | 1,5 | 0.13 ± 0.01 | c.374A > T; p.His125Leu | Not described (possible new mutation that need to be confirmed) |
63 | 77 | F | FS | 1.04 ± 0.42 | |||
64 | X | M | Genetics | FS | 1.9 ± 0.84 | c.463G > C; p.Asp155His | [40] |
65 | X | F | FS | NM | |||
66 | 42 | M | Cardiology | FS | 1.87 ± 0.53 | p.Arg227Gln | [41] |
67 | X | M | FS | 1.96 ± 0.47 | |||
68 | 35 | F | Internal Medicine | 1,3,4,9 | 5.88 ± 0.37 | c.431delG; p.Gly144Alafs*21 | Not described |
69 | 48 | M | Genetics | 1,10,13 | 0.84 ± 0.18 | c.1182delA; p.Phe396Serfs*8 | Not described |
70 | 37 | M | Nephrology | 1 | 0.63 ± 0.03 | c.509A > T; p.Asp170Val | [42] |
71 | 23 | F | Internal Medicine | 3,8,11 | 1.02 ± 0.13 | c.1277_1278delAA; p.Lys426Argfs*11 | [43] |
72 | 19 | F | Internal Medicine | FS | 2.43 ± 0.58 | c.132G > T; p.Trp44Cys | [44] |
73 | X | M | Internal Medicine | 2,3,4,8,9,10 | 1.21 ± 0.54 | c.932 T > C; p.Leu311Pro | Not described |
74 | 35 | F | Nephrology | 3,6,10,11 | 1.35 ± 0.01 | c.155G > C; p.Cys52Ser | [45] |
75 | 46 | M | Internal Medicine | 2,4,8 | 0.85 ± 0.34 | c.572 T > C; p.Leu191Pro | [46] |
76 | 71 | F | Genetics | 1,10 | NM | c.337 T > C; p.Phe113Leu | [42] |
77 | 43 | F | Nephrology | FS | 8.37 ± 0.84 | c.298A > T; p.Arg100* | [47] |
78 | 55 | F | Cardiology | 9,4 | 7.61 ± 0.63 | c.53 T > G; p.Phe18Cys | [48] |
79 | 27 | M | Clinical Pathology | 1, 12 | 1.98 ± 0.25 | c.125 T > A; p.Met42Lys | Not described |