Gender |
Male |
Male |
Male |
At Wilson's disease diagnosis |
Age (years) |
34 |
58 |
23 |
Mutation 1 |
His1069Gln‐exon14 |
Phe714Leu‐exon8 |
Thr977Met‐ex13 |
Mutation 2 |
Pro1098Arg‐exon15 |
deletion‐exon 4 |
Ile1148Thr‐ex16 |
Clinical form of WD |
Hepatic + KFR |
Hepatic and neurologic |
Presymptomatic |
UWDRS |
0 |
3 (writer cramp) |
0 |
Hepatic score (0–6) |
5 (compensated cirrhosis, platelets 70,000/mm4) |
3 (mild cirrhosis, no cytopenia) |
0 |
Ophthalmologic score (0–2) |
2 |
0 |
0 |
Brain MRI |
Normal |
Normal |
Normal |
Treatments |
zinc acetate (150 mg/day) |
D‐Penicillamine 900 mg/d during 6 years then zinc acetate 150 mg/d |
D‐Penicillamine 900 mg/d during thirteen years, then Trientine 2HCL 600 mg/d + zinc sulfate 1200 mg/d |