Table 1.
Laboratory and histological findings in the present patient at first examination and after treatment
| Biochemical variables | Results A | Results B | Results C | Normal values |
|---|---|---|---|---|
| AST, ukat/l | 0,36 | 0,39 | 0,3 | 0,1–0,6 |
| ALT, ukat/l | 0,66 | 0,5 | 0,22 | 0,1 - 0,6 |
| ALP, ukat/l | 0,9 | 0,5 | 0.94 | 0,5–2,0 |
| GGT, ukat/l | 0,52 | 0,86 | 0,31 | 0,1–1,3 |
| Glycemia, mmol/l | 5,5 | 5,4 | 5,1 | 4,0 - 5,8 |
| Ceruloplasmin (CP) concentration, g/l | < 0,02 | < 0,02 | < 0,02 | 0,15–0,3 |
| u-Cu/24 h, nmol/24 h | 346 | < 1000 | ||
| S-Cu, umol/l | 4,7 | 2,0 | 2,1 | 12–24 |
| S-Fe, umol/l | 3,42 | 4,2 | 5,3 | 10,7–32 |
| Ferritin, ng/ml | 675 | 461,39 | 204 | 4,6–204 |
| Saturation of transferrin, % | 4,9 | 7,0 | 7,3 | 20–45 |
| TG, mmol/l | 1,53 | 1,06 | 1,38 | < 1,7 |
| Cholesterol, mmol/l | 5,19 | 5,62 | 5,9 | 2,9 - 5,0 |
| LDL, mmol/l | 3,68 | 3,67 | 3,83 | < 2,6 |
| Albumin, g/l | 47,6 | 42,8 | 45 | 35–52 |
| Imunology and virology | ||||
| Autoantibodies (ANA, ANCA, a-LKM, AMA, ASMA) | negative | |||
| Serology (HAV,HBV,HCV, HEV) | negative | |||
| BMI | 30 | 30 | 30 | 20–25 |
| Histology | Normal values | |||
| ug cooper/gram of dry liver tissue | 33 | 25–50 | ||
| ug iron/gram of dry liver tissue | 14,602 | < 1600 μg/g | ||
AST aspartate aminotransferase, ALT alanine aminotransferase, ALP alkaline phosphatase, GGT gamma-glutamyltransferase, u-urine, s serum, Cu cooper, Fe iron, TG triglycerides, LDL low density lipoprotein, ANA Anti-nuclear antibodies (Ab), ANCA Anti-neutrofil cytoplasm Ab, a-LKM Anti-liver/ kidney microsomal Ab, AMA Anti-mitochondrial Ab, ASMA Anti-smooth muscle Ab, HAV hepatitis A virus, HBV hepatitis B virus, HCV hepatitis C virus, HEV hepatitis E virus, BMI body mass index
Results A - first examination, Results B - 12 months after starting treatment, Results C - last examination (21 months after starting treatment)
Comments: hepatic enzyme levels (ALT, ALP, and GGT) and albumin were normal throughout the follow-up, the AST value was slightly increased before treatment, CP and serum copper were very low throughout the follow-up, low serum iron and transferrin saturation persisted, the ferritin level normalized during treatment, the patient had slightly elevated cholesterol and LDL (with normal values of TG) throughout the follow-up (without hypolipidaemic treatment), blood glucose values were normal, and weight and BMI remained unchanged