الفهرس 
Wilson’s Disease
Liver Biopsy FindingsOnly 14 pages are availabe for public view
Abstract
The study included 25 WD patient, with mean age at diagnosis 10.04± 4.23 years old.
In our study; we determined the long term outcome and progression of the hepatic histopathology in two liver biopsies from patients with wilson’s disease under treatment. We compared liver biopsy done at diagnosis and another one at least 3 years later and correlated it with the clinical and biochemical outcome.
The slides of liver biopsies were examined by the same pathologist for evaluation of possible histopathological differences between initial and second biopsy.
The histological progression of the 25 WD patients was evaluated according to the progression of fibrosis score (Ishak fibrosisi score) in the second biopsy.
4/25 of the patients were progressors,9/25 were Regressors and 11/25 were stationary/non progressors.
23 patient were on D-PCA and zinc therapy(mixed therapy) and only 2 patients were on zinc only,the two were related to the non progressor/stationary group, there was no change of the therapy during the follow up period.
treatment with penicillamine and/or zinc salts was effective in 76% of patients, in those patients, histological stage had not progressed, remained stable(n=10) or improved (n= 9) compared with the baseline data, whereas only 24% of the patients showed progression (n=4).
In the long term follow up of the clinical data of our patients,there was regression in the number of the patients with hepatic cirrhosis.There was improvemet of the neurological findings and the presence of KF rings.There was also improvement in the laborartory results in the long term follow up in each of the following; (AST, Direct bilirubin, 24 hour urinary copper execretion, free copper and HB%) with highly significant difference and a significant difference in (ALT, Serum Albumin, INR, Serum bilirubin, serum copper) in the time of the second biopsy with highly significant difference.
According to the histopathological examination of the biopsies, there was improvement in the Activity Score in the long term follow up with significant difference and no significant difference in steatosis between the first and the second biopsy.
In our study we compared the progressors(n=4/25),the regressors (n=9/25) and the stationary/non progressors
(n=11/25) and found that the regressors had younger age at the time of the first biopsy than other groups.
There was also difference in the age of the first biopsy between the stationary (non progressors) mean=(10.50± 5.84)years old and the progressors but with no significant difference.
There was no significant difference in the patient age at the time of the second biopsy in the three groups. There was no significant sex difference between the three groups. There was no significant difference in the phenotype variability of the WD patients between the three groups, but non of the progressors was neurological phenotype. 50% of the progressors had ascites at the time of the first biopsy in comparison to 8.3% of the non progressors (stationary) and 33.3% of the regressors.
75% of the progressors had collaterals at the time of the first biopsy in comparison to 16.7% of stationary (non progressors) and 33.3% of the regressors.
100% of the progressors in comparison to 25% of stationary (non progressors) had portal hypertension at the time of the first biopsy, and 44.4% of the regressors had portal hypertension.
100%of the progressors had coarse liver at the time of the first biopsy in comparison to 33.3% of the stationary and 44.4% of the regressors.
24 hour urinary copper after challenge test at the time of the first biopsy in the stationary/non progressors was 294.65μg per 24 hours and in the regressors was 614 μg per 24 hours with significant difference, while in the progressors was 665.5 μg per 24 hours (lower in the stationary group).
The level of serum ceruloplasmin in the regressors was 4.2mg/dl,in the non progressors was 5.7mg/dl and in the progressors was 8.35mg/dl at the time of the first biopsy(lower in the regressors).
In our study we had Nine WD patient with Mutation analysis (genetic study); Four with missense mutation and Five with nonsense (frame shift mutation).There is no difference in the phenotype between the two types of mutation (all Nine patient are hepatic phenotype)
There is less histopathological deterioration in the non sense/frame shift group in comparison to missense group at the first as well as the second biopsywith no significant difference.