sCD163 and sMR in Wilsons Disease - Associations With Disease Severity and Fibrosis

Macrophages and the Macrophage Activation Markers sCD163 and Mannose Receptor (sMR) in Patients With Wilsons Disease - Associations With Liver Disease Severity and Fibrosis

The aim is to investigate macrophage activation markers and correlations to liver fibrosis in patients with Wilsons Disease. Researchers wish to investigate associations to neurologic and metabolic liver function. Researchers will assess this by comparing blood samples with fibrosis and liver function analyses. This study provides new insight into macrophages and their involvement in Wilsons Disease.

All patients will receive all interventions (galactose elimination capacity test , ultrasound, fibroscan, continuous reaction time test and functional hepatic nitrogen clearance ), except liver biopsy.

Liver fibrosis will be determined using fibroscan, and reported as changes in the amount of fibrosis in the liver. The fibroscan is a non-invasive procedure

Galactose elimination capacity is performed to evaluate metabolic liver function. The metabolic liver function test galactose elimination capacity requires a 6-hour fast, the infusion of galactose, blood sampling from the ear lobe, and collection of urine for 4 hours.

Functional hepatic nitrogen clearance to evaluate metabolic liver function Functional hepatic nitrogen clearance requires a 12-hour fast, two venflons, the infusion of alanine, and urine sampling for 4 hours

The patient collects urine for 24 hours at home in a designated container, which is handed out at the department. The container is kept refrigerated and is brought to the control

Ultrasound is a non-invasive procedure. Signs og liver cirrhosis by ultrasound are surface modularity, a smaller liver, heterogeneous echo texture and signs of portal hypertension.

Liver fibrosis will be determined using fibroscan, and reported as changes in the amount of fibrosis in the liver. The fibroscan is a non-invasive procedure.

Continous Reaction Time is a computerized 10 minutes test that measures and combines motor reaction speed and sustained attention.

The metabolic liver function test Galactose elimination capacity requires a 6-hour fast, the infusion of galactose, blood sampling from the ear lobe, and collection of urine for 4 hours.

Histological disease activity at time of diagnosis and liver biopsy, evaluating if any liver fibrosis

Functional hepatic nitrogen clearancerequires a 12-hour fast, two venflons, the infusion of alanine, and urine sampling for 4 hours. It evaluates the metabolic liver function by measuring the clearance of alanine from blod by analyzing the amount og urea in the urine collected 4 hours after the start og the alanine infusion.

The Portosystemic Encephalopathy test is a 15-minute paper-pencil test battery comprised of 5 sub-tests: Digit Symbol test (DST), Number Connection Test A (NCT-A), Number Connection Test B (NCT-B), Serial Dotting Test (SDOT), and Line Tracing Test (LTT, time and errors).

Bjorklund J, Laursen TL, Sandahl TD, Moller HJ, Vilstrup H, Ott P, Gronbaek H. High hepatic macrophage activation and low liver function in stable Wilson patients - a Danish cross-sectional study. Orphanet J Rare Dis. 2018 Sep 21;13(1):169. doi: 10.1186/s13023-018-0910-7.