Table 1 Demographical features (N = 30)

Gender, female

17 (56.7)

Age (year), mean (SD)

13.75 (3.22)

z-score for weight (kg), median (range)

−0.02 [−1.26−(+ 3.58)]

z-score for height (cm), median (range)

0.08 [−1.86−(+ 1.53)]

z-score for body mass index (kg/m²), median (range)

0.21 [−3.20−(+ 2.59)]

Age of onset of Wilson’s disease (year), mean (SD)

7.04 (3.51)

Duration of follow-up of Wilson’s disease (year), mean (SD)

6.74 (4.26)

Symptoms/findings that require investigation for diagnosis

Elevated liver transaminase levels

15 (50.0)

Sibling screenings

10 (33.3)

Jaundice

3 (10.0)

Focal fatty liver on ultrasonographic examination

1 (3.3)

Extrapyramidal symptoms

1 (3.3)

İnvolved organs

Liver

29 (96.7)

Brain

1 (3.3)

Caregiver

Parents

28 (93.3)

Grandparents

2 (6.7)

Education

Elementary school

5 (16.7)

Middle school

11 (36.7)

High school

13 (43.3)

Bachelor

1 (3.3)

Socioeconomic status

Low

8 (26.7)

Medium

17 (56.7)

High

5 (16.7)

Family history of Wilson’s disease

22 (73.3)

Consanguineous marriage

17 (56.7)

Disease knowledge

Low

10 (33.3)

Medium

4 (13.3)

High

16 (53.4)

Treatment knowledge

Low

11 (36.7)

Medium

3 (10.0)

High

16 (53.3)

Illness perception

Low

14 (46.7)

Medium

1 (3.3)

High

15 (50.0)

Medications

D-penicillamine

27 (90.0)

Trientine

3 (10.0)

Zinc

29 (96.7)

Pyridoxine (vitamin B₆)

19 (63.3)

Other medications (vitamin D, E, iron, enalapril, sertraline, lansoprazole, etc.)

8 (26.7)

Adverse effects

D-penicillamine related proteinuria

3 (10.0)

D-penicillamine related skin rash

2 (6.7)

Zinc related gastrointestinal symptoms (vomiting, stomach upset)

2 (6.7)

Kayser-Fleischer rings

3 (10.0)

ATP7B genotype

24 (80.0)

Ceruloplasmin, mg/dl (onset of treatment), median (range) (n = 30)*

5.4 (2.0–44.6)

Hepatic copper, µg/g dry weight (onset of treatment), median (range) (n = 16)**

502.0 (4.5–1983.0)

Urinary copper excretion, µg/24 h (onset of treatment), median (range) (n = 10)***

497.5 (107.0–1075.0)