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)
|
- Abbreviations: IS: Ishak Fibrosis Score; ACH, active chronic hepatitis; F, fibrosis; ND, not done; S, steatosis.