Transient elastography of the liver in children with Wilson's disease: Preliminary results.

Purpose: In chronic liver diseases, liver stiffness (LS) is increased, primarily because of liver fibrosis, but other factors, such as intrahepatic deposits, may also be involved. We hypothesized that intrahepatic copper accumulation occurring in Wilson's disease (WD) also leads to an increase in LS. The aim of this study was thus to investigate the changes in LS during treatment in pediatric patients with WD.

Methods: Consecutive patients younger than 18 years old, whose WD was diagnosed between 2008 and 2013, were enrolled. All patients underwent testing for liver function and urinary copper excretion, and LS was measured on transient elastography at baseline and at 6- to 12-month intervals during specific therapy.

Results: Nine patients were included in the analysis; only two were diagnosed with cirrhosis. The median LS decreased during treatment from 15.1 kPa (range, 5.1-66 kPa) at baseline to 10 kPa (4-16.1 kPa) at follow-up interval 1, and to 6.1 kPa (3.9-11.6 kPa) at follow-up interval 2 (p < 0.0001). In parallel, the differences in urinary copper excretion over the follow-up period were not statistically significant, although the decrease in LS correlated with the increase in urinary copper excretion (r = 0.6).

Conclusions: In pediatric patients with WD, LS is high at the time of diagnosis and decreases during specific treatment, in parallel with an increase in the urinary copper concentration.