Table 1.
Baseline clinical and analytical features of patients at admission to the referral centre
| Case 1 | Case 2 | Case 3 | Reference values | |
|---|---|---|---|---|
| Clinical features | ||||
| Sex | M | M | M | |
| Age (year of birth) | 11 years (2000) | 15 months (2010) | 18 months (2013) | |
| Parental consanguinity | no | no | no | |
| Family history | negative | negative | negative | |
| Weight, kg/percentile | 43.6/p50–85 | 11.0/p50–85 | 11.0/p50 | |
| Length or height, cm/percentile | 150.5/85 | 80/p50–85 | 82/p50 | |
| BMI, kg/m2/percentile | 19.25/p50–85 | 17.2/p50–85 | 16.4/p50–85 | |
| Hepatomegaly | no | yes (5 cm) | yes (3.5 cm) | |
| Splenomegaly | no | no | no | |
| Biochemical parameters | ||||
| Total bilirubin, mg/dL | 0.28 | 0.16 | 0.26 | 0.20–1.00 |
| Conjugated bilirubin, mg/dL | 0.10 | 0.06 | 0.10 | 0.00–0.20 |
| AST, IU/L | 26 | 150 | 158 | 10–34 |
| ALT, IU/L | 16 | 219 | 60 | 10–44 |
| γGT, IU/L | 13 | 35 | 24 | 10–66 |
| CPK, IU/L | 136 | 95 | NA | 24–204 |
| Glucose, mg/dL | 77 | 66 | 74 | 70–105 |
| Bicarbonates, mmol/L | 17.5 | 17.9 | 15.4 | 22.0–29.0 |
| Lactate, mmol/L | 1.2 | 1.28 | 1.63 | 0.5–2.20 |
| Uric acid, mg/dL | 4.7 | 3.4 | 4.0 | 2.0–5.5 |
| Total cholesterol, mg/dL | 174 | 174 | 196 | 0–200 |
| LDL cholesterol, mg/dL | 94 | 116 | 136 | 0–130 |
| HDL cholesterol, mg/dL | 70 | 13 | 25 | 35–55 |
| VLDL cholesterol, mg/dL | 10 | 45 | 35 | 3–56 |
| Triglycerides, mg/dL | 50 | 227 | 174 | 40–160 |
| Other exams performed after | ||||
| Hepatitis A, B, and C | negative | negative | negative | |
| CMV | IgG+ IgM– | IgG– IgM– | IgG+ IgM– | |
| EBV | IgG + IgM– | IgG– IgM– | IgG+IgM– | |
| Serum alpha-1-antitrypsin, mg/dL | normal | normal | normal | |
| Serum ferritin, ng/mL | 22 | NA | NA | 12.8–454 |
| Transferrin saturation rate, % | 10 | NA | NA | 15–45 |
| Serum caeruloplasmin, mg/dL | 26 | NA | NA | 16–36 |
| 24-h urinary copper,µmol/d | 1.086 | ND | ND | 0.040–0.050 |
| Copper in liver tissue,µg/g | 24.82 | ND | ND | <40 |
| Sweat test | ND | normal | ND | |
| LAL activity (in leucocytes) | normal | ND | normal | |
| Molecular studies | ||||
| PhKA2 gene | mutation c.1054C>T (p.352X) exon 11 in hemizygosity | mutation c.892C>T R298X) exon 9 in hemizygosity | (p. mutation c.706G>T (p.E236*) exon 7 in hemizygosity | |
BMI, body mass index; CMV, cytomegalovirus; EBV, Epstein-Barr virus; LAL, lysosomal acid lipase; NA, non-available; ND, not done.