| 1Background Hepatolenticular degeneration(HLD)also known as Wilson's disease(WD),HLD is an autosomal recessive genetic disease located on chromosome 13 ATP7 B copper enzymes mutations that can lead to metabolic disorders and bile excretion disorder. The copper metabolic disorders of hepatolenticular degeneration has been confirmed by a large number of clinical trials and biopsy pathology. In HLD, the copper ions deposit in the liver, kidney, cornea and deep brain nuclei such as lenticular nucleus, caudate nucleus and other areas. The clinical treatment gives priority to using copper metal chelating agent to displace or discharge copper. But some patients didn't get better after the treatment, a few appeared even sicker. After a deep study, we find there is close relationship between copper metabolism and iron metabolism. The hepatolenticular degeneration patients not only have the metabolic disorders of copper, but also the metabolic disorders of iron. Clinical trials, imaging and living tissue pathology have also confirmed hepatolenticular degeneration patients existing iron overload.Quantitative magnetic susceptibility(QSM) is a new technology based on the magnetic sensitive weighted imaging(SWI). Like SWI, it also uses the differences of magnetic susceptibility to image and can overcome the limitations of SWI depending on the directions so as to get the purpose of measuring the change of iron content in brain tissue accurately.2Objective To explore the application value of QSM in the study of brain iron deposition and the relationship between the change magnetic susceptibility values and serum copper, urine copper, urine iron, copper blue protein and the copper oxidase in patients with HLD.3Methods Find 34 patients with hepatolenticular degeneration and 28 age and gender-matched healthy volunteers to undergo conventional MRI FLAIR ?3 D anatomy imaging and QSM ESWAN sequence scan; Usethe method of MEDI to process to get the QSM data;Through morphological whole brain automation measurement method based on voxel(VBA), use AFNI software to analyze the valuable magnetic susceptibility data between the HLD groups and health control groups by voxel analysis(3dttest++) to obtain the inter-group analysis results; Carry out the correlation analysis between the magnetic susceptibility value of HLD group and the age, course of disease, 24 H urinary copper,24 h urinary iron and copper oxidase activity.4Results The group analysis results show that in the HLD groups compared with control groups,the magnetic susceptibility values significantlyget changed(p= 0.01, ??0.05, cluster size = 176)in many deep-gray nuclei and the cortex area of gray matter. Its region successively as :the right thalamus, left thalamus, right lentiform nucleus, right temporal lobe gray matter, left side of the hat with lobular, right lentiform nucleus, right side of the insula, left lentiform nucleus.The covariate analysis results show thatthe susceptibility values in left lentiform nucleus,right precuneus, left precuneus,right precuneus cingulate gyrus, right cuneus were positively correlatedwith the age of the patients in HLD.In HLD, there is no obvious correlation between the susceptibility values and the patient's course of time, copper oxidation reaction enzymatic activity, 24-hour urine copper and urine iron.5Conclusions There are abnormal paramagnetic materials deposited in the gray matter nuclei and the cortical gray of the HLD patients.That means In HLD patients there are not only copper metabolic disorders but also iron metabolism disorder,and iron deposits may be secondary to the damage of copper deposition. Copper and iron compound deposition may cause damage of basal ganglia, thalamus cortex- loop in extrapyramidal symptoms.The magnetic susceptibility values of QSM can be used as an effective method to measure and assess the abnormal paramagnetic materials deposited in brain gray matter nuclei for HLD patients. |
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