Table 2 Wilson disease patient clinical data summary
From: Three novel mutations in the ATP7B gene of unrelated Vietnamese patients with Wilson disease
Patient | Sex/Age of onset | Mutations (exon) | Phenotype | Kayser-Freicher rings | Serum ceruloplasmin | Serum free copper | 24 h urinary copper | AST | ALT | PT |
|---|---|---|---|---|---|---|---|---|---|---|
Normal | – | 20–35 mg/dL | < 15 μg/dL | < 60–100 μg | < 40 IU/L | < 40 IU/L | > 70% | |||
Patient 1 | Male/8 | p.Phe1026Tyr (exon 14), c.2866-2A > G (intron 12) | Hepatic, Neurologic | + | 0.0032 mg/dL | 49 μg/dL | 580 μg | 26.82 IU/L | 20.1 IU/L | 49% |
Patient 2 | Female/8 | p.His251Alafs*19 (exon 2), p.Ser105* (exon 2) | Hepatic | + | 0.0190 mg/dL | low | 150 μg | 139.1 IU/L | 116.9 IU/L | 22% |
Patient 3 | Male/10 | p.Pro868Profs*5 (exon 11), p.Ser105* (exon 2) | Hepatic | + | 0.0920 mg/dL | low | 3639 μg | 129.0 IU/L | 55.7 IU/L | 17% |