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Table 1 Baseline characteristics of 42 patients with WD

From: Zinc monotherapy is effective in Wilson’s disease patients with mild liver disease diagnosed in childhood: a retrospective study

Patient Sex Age at diagnosis (months) Diagnosis by familial screening Presentation ATP7B genotype AST (UI/L) ALT (UI/L) GGT (UI/L) Ceruloplasmin (mg/dl) Basal urinary copper (mcg/24 h) Hepatic copper (mcg/g dry weight) Liver biopsy
1 F 48 Yes Hepatic No mutation found 168 210 21 8 4 1060 F (IS:1)
2 M 96 No Hepatic No mutation found 30 63 11 5 14 250 F (IS:1)
3 M 108 No Hepatic p.H1069Q/p.H1069Q 78 202 78 23 198 750 S, F (IS:1)
4 F 78 No Hepatic p.H1069Q/unknown 72 196 38 15 180 514 S, F (IS:1)
5 M 101 No Hepatic p.H1069Q/p.H1069Q 112 252 70 19 120 ND ND
6 M 60 No Hepatic p.T858A/c.51 + 4A > T 179 514 99 3 139 532 S, F (IS: 2)
7 F 16 Yes Hepatic p.P840L/p.N1270S 53 28 20 3 15 ND ND
8 M 87 No Hepatic p.P840L/p.N1270S 96 288 77 2 135 919 S, F (IS:2), ACH
9 F 13 Yes Hepatic c.2299insG/c.2299insG 42 27 16 7 ND ND ND
10 M 19 Yes Hepatic c.2299insG/c.2299insG 67 35 15 6 15 ND ND
11 M 170 No Hepatic c.51 + 384_1708-953del/ c.51 + 384_1708-953del 199 582 267 2 254 ND S, F (IS:1)
12 M 125 No Mixed p.H1069Q/p.H1207P 35 106 62 18 300 300 F (IS: 2)
13 M 74 No Hepatic p.R1319X/p.R1319X 161 362 101 2 116 260 S, F (IS:2)
14 F 80 No Hepatic p.P840L/p.N1270S 153 370 80 2 117 ND F (IS: 2)
15 M 52 No Hepatic p.R1319X/unknown 137 307 55 2 40 1203 S, F (IS:1)
16 M 12 Yes Hepatic c.2447 + 5A > G/c.2447 + 5A > G 55 57 20 11 ND ND ND
17 M 73 No Hepatic c.2447 + 5A > G/c.2447 + 5A > G 114 148 51 8 262 1056 S, F (IS: 2)
18 M 58 No Hepatic c.2447 + 5A > G/c.2447 + 5A > G 150 424 47 6 241 1048 S (IS:1)
19 M 72 No Hepatic p.H1069Q/p.T1220M 117 412 70 12 228 ND S, F (IS:2)
20 M 36 Yes Hepatic p.H1069Q/p.T1220M 22 12 13 16 31 ND ND
21 M 64 No Hepatic p.D765N/unknown 99 201 105 6 137 407 ND
22 M 65 No Hepatic p.H1069Q/p.H1069Q 130 395 187 16 270 1129 S, F (IS: 1)
23 F 79 No Mixed p.T1220M/c.51 + 4A > T 64 208 61 2 119 1041 S, F (IS: 1)
24 F 29 Yes Hepatic p.T1220M/c.51 + 4A > T 54 50 21 2 22 1002 S, F (IS: 1)
25 F 92 No Hepatic p.H1069Q/p.R1041P 52 110 36 18 108 714 S, F (IS: 1)
26 M 130 No Hepatic p.T1220M/unknown 100 148 100 3 84 1060 S, ACH
27 M 152 No Hepatic p.T1220M/unknown 33 52 73 2 413 60 S, ACH
28 F 70 No Hepatic ND 205 398 83 7 172 676 S, F (IS:1)
29 M 100 No Hepatic p.S1369L/p.S1369L 102 173 60 2 236 ND S, F (IS:2)
30 M 76 No Hepatic p.G591D/p.R969Q 146 502 119 7 780 761 S
31 M 69 No Hepatic c.2304-2305 insC/c.2304-2305 insC 117 276 103 2 595 977 S
32 M 42 No Hepatic p.V1262F/p.V1297N 117 262 41 2 14 ND ND
33 M 73 No Hepatic p.H1069Q/p.G711E 169 480 227 18 150 620 S, F (IS: 1)
34 M 192 No Mixed p.H1069Q/p.N1270S 27 23 32 6 165 970 S, F (IS: 2)
35 M 75 No Hepatic c.1782delT/c.3182G > A 185 398 70 4 180 296 S, F (IS: 2)
36 M 29 Yes Hepatic c.1782delT/c.3182G > A 69 64 16 2 16 1230 S
37 F 63 No Hepatic p.A1003T/p.A1003T 80 147 45 38 66 785 S, ACH
38 M 99 No Hepatic ND 79 181 89 4 91 780 S, F (IS 1)
39 F 72 No Hepatic p.I899F/p.N1270S 66 215 67 8 157 1449 S, F (IS: 1)
40 M 56 No Hepatic c.2304dupC/unknown 188 483 102 2 138 1660 S, F (IS: 2)
41 M 39 Yes Hepatic c.2304dupC/unknown 51 37 11 3 25 904 S, F (IS:1)
42 F 84 No Mixed ND 156 187 191 3 145 600 S, F (IS: 1)
  1. Abbreviations: IS: Ishak Fibrosis Score; ACH, active chronic hepatitis; F, fibrosis; ND, not done; S, steatosis.
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172