Table 1 Diagnostic findings in patients with WD (n = 1366)
From: Clinical and genetic characterization of a large cohort of patients with Wilson’s disease in China
Hepatic (n = 307) | Neurologic (n = 737) | Asymptomatic (n = 238) | Others (n = 20) | Siblings (n = 64) | |
|---|---|---|---|---|---|
Males (%) | 173 (56.4) | 437 (59.3) | 161 (67.6) | 12 (60.0) | 38 (59.4) |
Age at onset (years) | |||||
Range | 2.6–64.8 | 5.5–62.6 | 1.8–50.9 | 4.7–26.0 | - |
Mean ± SD | 17.6 ± 10.4 | 19.3 ± 8.0 | 9.5 ± 8.0 | 12.0 ± 5.5 | - |
Age at diagnosis (years) | |||||
Range | 3.1–65.6 | 5.5–62.8 | 2.0–54.2 | 5.3–26.8 | 2.8–48.0 |
Mean ± SD | 18.5 ± 10.8 | 20.2 ± 8.4 | 10.4 ± 8.7 | 13.2 ± 5.1 | 13.8 ± 10.9 |
Presented symptoms (male/female) | Acute hepatic WD (39/35) Chronic hepatic WD (134/99) | Dystonia (289/193) Tremor (325/200) Gait abnormality (204/153) Dysarthria (298/228) Swallowing difficulty (88/55) Salivation (166/125) | Elevated transaminases (160/73) K–F rings (1/4) | Osseomuscular (8/7) Renal (4/1) | Asymptomatic (29/24) Hepatic (3/0) Neurologic (5/2) Renal (1/0) |
CPL < 0.1 g/l (%) | 275/303 (90.8) | 698/728 (95.9) | 208/227 (91.6) | 19/20 (95.0) | 58/60 (96.7) |
K–F ring (%) | 273 (88.9) | 708 (96.1) | 117 (49.2) | 17/3 (85.0) | 36 (56.3) |