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Objective@#To report a case of peripheral neuropathy secondary to copper deficiency (CD) by long-term decoppering chelation in Wilson′s disease (WD) to enhance understanding of the disease, and to pay more attention to individualized treatment of WD. @*Methods@#A case of WD diagnosed 12 years ago confirmed by gene detection and since then treated with anti-copper agent was diagnosed as CD based peripheral neuropathy and significant neutropenia and followed up for six months, and the clinical manifestations, laboratory examination, electrophysiology, imaging features were summarized. The related literatures were reviewed. @*Results@#A total of 16 cases of WD complicated with CD were reviewed and analyzed, including seven males and nine females aged 13-56 years. All of them were treated with zinc for 1-38 years, and nine cases with peripheral neuropathy. Hematological indicators can be significantly improved and neurological symptoms can be partially alleviated after stopping copper removal treatment. @*Conclusions@#Peripheral neuropathy in a WD with treatment-related CD may occur in blind treatment, irregular treatment monitoring and without individualized treatment adjustment. It is necessary to monitor blood routine, copper and zinc metabolism regularly and advocate individualized treatment of WD.
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Objective To examine the brain metabolic changes in WD patients receiving copper chelation by us?ing 1H-MRS. Method Thirty-nine patients with WD was randomly divided into four groups: non-brain type group (18 cases), brain type prior-treatment group and short-term treatment group (21 cases), long-term treatment group (20 cases) from short-term treatment group, and 20 healthy volunteers served as a control group. 1H-MRS and MRI were performed on patients on 1.5/MR/MRS system to detect these above-mentioned items before and after treatment. Result The mean of NAA/Cr was significantly lower in the left putamen and head of the caudate nucleus than in the left basal ganglion in the 39 patients with WD. The mean of NAA/Cr and Cho/Cr in the left putamen and basal ganglion was significantly lower in non-brain type group than in control group(P0.05). The mean of NAA/Cr and NAA/Cho in the left putamen and basal ganglion was much higher in long-term treatment group than in brain type group(P<0.01 or P<0.05). The mean of Cho/Cr in the left head of caudate nucleus were much higher after treatment compared with prior-treatment group(P<0.05). The mean of NAA/Cr in the left putamen, head of the left caudate nucleus and basal ganglion in all groups was negatively correlated with course of the disease. Conclusion There are significant differences in brain metabolism among different type of WD. The long-term but not short-term copper chelation significantly improves brain metabolism. NAA/Cr may be used as a non-invasive indicator to examine the efficacy of treatment.
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<p><b>OBJECTIVE</b>To study the clinical and genetic characteristics of twins and siblings affected with Wilson's disease (WD).</p><p><b>METHODS</b>Clinical data and blood samples were collected from the subjects after informed consent was obtained. Genomic DNA was extracted and potential mutations in the exons in ATP7B gene were detected with PCR-DNA sequencing. Short tandem repeat (STR) genotyping was performed to determine the zygosity of the twins.</p><p><b>RESULTS</b>The 5 pairs of twins have all met the diagnostic criteria for WD. STR genotyping has confirmed that 4 pairs were monozygotic twins. 3 pairs of twins had an onset with liver symptoms, the other 2 had an onset with brain symptoms. ATP7B gene mutations were detected in 4 pairs of twins, which have all located in exons 8 and 13. A heterozygous p.R778W mutation in exon 8 and homozygous p.P992L mutation in exon 13 were detected in all patients from one family, whose parents have carried a heterozygous p.R778W mutation and p.P992L heterozygous mutation, respectively, which suggested loss of heterozygosity (LOH). In one family, no mutation was detected in all exons of the ATP7B gene in the patients and their parents. For a triplet, one female was with definite WD and brain symptoms at the onset, one male had subclinical type with WD, whilst another female was completely normal. The triplets and their mother have all carried a p.P992L heterozygous mutation .</p><p><b>CONCLUSION</b>Above results have confirmed an important role for genetic factors in the pathogenesis of WD. In addition to point mutations, LOH is also involved in the pathogenesis for WD.</p>
Subject(s)
Adolescent , Child , Child, Preschool , Female , Humans , Male , Young Adult , Adenosine Triphosphatases , Genetics , Base Sequence , Cation Transport Proteins , Genetics , Copper-Transporting ATPases , Exons , Genotype , Hepatolenticular Degeneration , Diagnosis , Genetics , Loss of Heterozygosity , Mutation , Siblings , TwinsABSTRACT
ObjectiveTo study the quality of life of patients with hepatolenticular degeneration (HLD)and analyze the influencing factors.Methods287 patients with HLD and 51 health people were investigated by World Health Organization quality of life assessment instrument brief version (WHOQOL-BREF),Symptom Checklist 90 (SCL-90),Life Satisfaction Index A (LSIA) and variance analysis,t-test and multiple linear regression analysis were analyzed the influencing factors.Results①Scores of WHOQOL-BREF:physical domain(54.64 ± 17.11 ),psychological domain ( 52.09 ± 15.83 ) in patients with HLD were lower than those in the health people (67.30 ± 12.66,58.90 ± 12.75 ) with statistically significant difference (P ＜ 0.01 ) ; social domain ( 51.35± 17.18),the domain of environment(53.54 ± 16.67) in patients with HLD were lower than those in the health people (57.53 ± 14.99,58.42 ± 10.55 ) with statistically significant difference (P ＜ 0.05 ).②The quality of life of the patients with HLD was influenced by LSIA,total score of SCL-90,the attitude toward the doctors,economic status,the attitude toward the disease,residence with statistically significant difference (P ＜ 0.0l ).ConclusionThe quality of life in patients with HLD is lower than that in health people and much factors influence it,so it is necessary to take multi-facet interventions to improve their quality of life.
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Objective To establish a fast and effective gene diagnosis method for Wilson's disease(WD) patients by double PCR-SSCP technology.Methods We amplificated exon8 and exon12 of ATP7B gene by double PCR from genomic DNA of 140 unrelated WD patients and 30 normal controls,then used SSCP technology to screen them.At last we identificated these patients' mutation features by direct sequencing.Results No abnormality shift was found in 30 controls.In 140 patients,we found 7 types of abnormal mobility shifts in 66 cases(47.14%).In subsequent direct sequencing,mutation rate of Arg778Leu/Gln was 37.14%(52/140),and Thr935Met was 12.86%(18/140).Conclusion Double PCR-SSCP diagnosis technology is a effective method which can improve diagnosis rate for Wilson disease.
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Objective:To study the anti-depression mechanism of Chaiyuwendan Decoction(CYWDD).Methods:Rat models were established by separation and chronic unpredictable mild stress(CUMS).Ethology of rats were detected by open-field test and sucrose consumption test,contents of monoamine neurotransmitters were detected by HPLC-ECD.Results:Compared with normal group,the weight,the frequency of crossing,rearing and the contents of consumption to sucrosum water in depressive disorder rats decreased significantly(P
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Objective To study the hypothalamic-pituitary-ovary axis function in female patients with hepatolenticular degeneration (HLD). Method By RIA test the levels of serum pituitary and sex hormones were observed. Results The level of fallicle-stimulating hormone (FSH) was significantly lower than that in control group ( P