Table 1.
Characteristics of pediatric patients with WD in Costa Rica at presentation (n = 34)
| Family‐case | Province | Age (years) | Sex | Kinship | Genotype | Phenotype | Previously reported | Leipzig score | KF ring | 24‐hour urinary copper (μmol/24 hours) | Ceruloplasmin (g/L)/ceruloplasmin ferroxidase activity (IU/L) | Hemolytic anemia coombs‐neg | INR | AST/ALT (IU/L) | Total bilirubin (mg/dL) | Liver copper (μg/g dry wt) | Modified Nazer score (if ALF) |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1‐1* | San José | 6.4 | Female | Sibling | p.N1270S/p.N1270S | Hepatic | + | 8 | – | 14.25 | 0.04 g/L | – | 1.00 | 38/62 | 0.7 | – | – |
| 1‐2 | San José | 10.3 | Female | Sibling | p.N1270S/p.N1270S | Presymptomatic | + | 8 | – | 6.9 | 1 IU/L | – | 1.00 | 85/121 | 0.6 | – | – |
| 2‐1* | Alajuela | 8.1 | Male | – | p.N1270S/p.N1270S | Hepatic | – | 8 | – | 1.41 | 0.00 g/L | – | 1.00 | 184/406 | 0.4 | 11.2 | – |
| 3‐1* | Puntarenas | 7.5 | Male | Sibling | p.N1270S/p.N1270S | Hepatic | + | 8 | – | 4.8 | 7 IU/L | – | 1.00 | 193/341 | 0.5 | – | – |
| 3‐2 | Puntarenas | 4.5 | Male | Sibling | p.N1270S/p.N1270S | Presymptomatic | + | 8 | – | 5.12 | 13 IU/L | – | – | 127/174 | 0.8 | – | – |
| 4‐1* | San José | 11.1 | Male | Sibling | p.N1270S/p.N1270S | Acute liver failure | – | 5 | – | – | – | + | 2.64 | 263/45 | 12.4 | – | 10 |
| 4‐2 | San José | 2.6 | Female | Sibling | p.N1270S/p.N1270S | Presymptomatic | – | 6 | – | 0.6 | 0.00 g/L | – | 1.00 | 47/35 | 0.4 | – | – |
| 5‐1* | Limón | 12.4 | Male | – | p.N1270S/p.L708P | Hepatic | – | 9 | + | 3 | 0.00 g/L | – | 1.40 | 98/30 | 1.0 | – | – |
| 6‐1* | Heredia | 9.5 | Male | Sibling | p.N1270S/p.L708P | Hepatic | – | 11 | – | 22.96 | 0.09 g/L | + | 1.46 | 216/123 | 12.1 | 4.66 | – |
| 6‐2 | Heredia | 15.7 | Male | Sibling | p.N1270S/p.L708P | Presymptomatic | – | 8 | – | 1.19 | 0.03 g/L | – | – | – | – | 4.75 | – |
| 7‐1* | Puntarenas | 12.1 | Female | – | p.N1270S/p.N1270S | Acute liver failure | – | 13 | – | 43.39 | 0.00 g/L | + | 3.15 | 236/101 | 30.1 | – | 11 |
| 8‐1* | San José | 8.3 | Female | – | p.N1270S/p.N1270S | Hepatic | – | 9 | – | 10 | 0.04 g/L | – | 1.77 | 102/60 | 0.9 | 2.1 | – |
| 9‐1*± | San José | 9.8 | Female | – | p.N1270S/p.N1270S | Acute liver failure | – | 13 | – | 26.45 | 0.00 g/L | + | 2.90 | 161/22 | 46.7 | – | 10 |
| 10‐1*± | Cartago | 13.7 | Female | 3rd Cousin | p.N1270S/p.N1270S | Acute liver failure | – | 15 | + | 162.14 | 9 IU/L | + | 3.23 | 127/19 | 47.7 | – | 9 |
| 10‐2 | San José | 17.9 | Female | 3rd Cousin | p.N1270S/p.T1434M | Presymptomatic | – | 9 | – | 16.1 | 0.17 g/L | – | 1.06 | 22/16 | 0.8 | 14.8 | – |
| 11‐1 | San José | 4.6 | Female | – | p.N1270S/p.N1270S | Presymptomatic | + | 6 | – | 1.07 | 6 IU/L | – | 1.10 | 52/56 | 0.2 | – | – |
| 12‐1 | San José | 13.1 | Female | – | p.N1270S/p.M645R | Presymptomatic | – | 8 | – | 17.6 | 0.00 g/L | – | 1.04 | 237/104 | 0.4 | – | – |
| 13‐1* | San José | 11.8 | Male | – | p.N1270S/p.N1270S | Coombsneg hemolytic anemia | + | 8 | – | 2.5 | 11 IU/L | + | 1.40 | 124/16 | 8.1 | – | – |
| 14‐1*† | Cartago | 9.8 | Male | – | p.N1270S/p.N1270S | Acute liver failure | – | 10 | – | – | 0.10 g/L | + | 2.46 | 147/21 | 35.9 | – | 9 |
| 15‐1 | Guanacaste | 6.3 | Male | – | p.N1270S/– | Presymptomatic | + | 4 | – | 1.59 | 35 IU/L | – | 1.00 | 127/206 | 0.6 | 25.3 | – |
| 16‐1 | San José | 1.7 | Female | – | p.N1270S/p.L708P | Presymptomatic | + | 8 | – | 6.8 | 0.00 g/L | – | 1.10 | 43/25 | 0.4 | – | – |
| 17‐1 | San José | 10.1 | Male | – | p.N1270S/p.N1270S | Presymptomatic | – | 10 | – | 25.5 | 0.03 g/L | – | 1.15 | 144/186 | 0.8 | 6.8 | – |
| 18‐1* | Puntarenas | 5.3 | Female | Sibling | p.M645R/– | Presymptomatic | – | 7 | – | 11.3 | 0.00 g/L | – | 1.06 | 87/111 | 0.4 | 23.77 | – |
| 18‐2 | Puntarenas | 5.9 | Female | Sibling | p.M645R/– | Presymptomatic | – | 5 | – | 7.84 | 0.00 g/L | – | – | – | – | – | – |
| 19‐1* | San José | 8.1 | Female | – | p.N1270S/p.N1270S | Acute liver failure | – | 13 | + | 71.65 | 6 IU/L | + | 3.15 | 219/36 | 50.8 | 5.59 | 11 |
| 20‐1* | San José | 10.5 | Male | – | p.N1270S/– | Hepatic | + | 9 | + | 7.16 | 11 IU/L | – | 1.18 | 152/158 | 2.2 | 6.78 | – |
| 21‐1 | Puntarenas | 6.8 | Male | – | p.N1270S/p.M645R | Presymptomatic | + | 8 | – | 5.04 | 7 IU/L | – | – | 143/208 | 0.7 | – | – |
| 22‐1 | San José | 6.5 | Female | – | p.N1270S/p.N1270S | Presymptomatic | – | 8 | – | 3.52 | 0.03 g/L | – | 1.09 | 100/197 | 1.1 | – | – |
| 23‐1 | San José | 9.9 | Male | – | p.N1270S/p.N1270S | Presymptomatic | – | 7 | – | 2.86 | 0.00 g/L | – | 1.10 | 262/231 | 0.8 | – | – |
| 24‐1* | Cartago | 11.8 | Male | – | p.N1270S/p.N1270S | Hepatic | – | 7 | – | – | 0.03 g/L | + | 3.90 | 230/100 | 9.0 | – | – |
| 25‐1* | San José | 7.3 | Male | – | p.N1270S/– | Hepatic | + | 6 | – | 8.26 | 0.02 g/L | – | – | 130/54 | 2.0 | 3.77 | – |
| 26‐1* | San José | 11.4 | Male | – | p.N1270S/p.N1270S | Hepatic | – | 8 | – | 21.07 | 0.00 g/L | – | 3.10 | 191/86 | 2.4 | – | – |
| 27‐1 | Alajuela | 12.3 | Male | – | –/– | Presymptomatic | – | 5 | – | 9.46 | 0.19 g/L | – | 1.10 | 25/12 | 1.4 | 13.7 | – |
| 28‐1* | San José | 11.6 | Male | – | p.N1270S/– | Hepatic | – | 4 | – | 35.43 | 0.00 g/L | – | 1.76 | 177/169 | 1.7 | – | – |
Abbreviations: ALF, acute liver failure; KF, Kayser–Fleischer; ULN, upper limit of normal; * = index case; ± = liver transplant; − = no; + = yes; † deceased.