PSYCHOTHERAPEUTICAL FEATURES OF PERSONS WITH MULTIPLE SCLEROSIS AND HEPATOCEREBRAL DEGENERATION.

Physiological process of aging causes a slight deterioration in memorization, learning, and the speed of cognitive processes. There is often a big gap between established standards, norms that work for mass and individual cases, for which standards are no more than guidelines, not prescriptions and dementia could be caused by many factors, the most important of which are degenerative, vascular, and toxic. Multiple sclerosis (MS) is the commonest non-traumatic disabling disease to affect young adults. Wilson's disease (WD) is an uncommon hereditary disorder caused by a deficiency in the ATP7B transporter. All of the above realized in the aim of our work: performing comprehensive clinical and laboratory examination of patients with multiple sclerosis and patients with Wilson's disease in order to study the problem of neurodegenerative diseases and their prevention. MATERIALS AND METHODS: The "Mini Mental Status Exam" scale was used for the screening assessment of the state of cognitive functions and the study of the level of intellectual productivity of patients. To determine the verbal memory, the method: "memorizing 10 words" was used, and the Derogatis SCl-90-P method was used to study the personality and emotional sphere. Psychodiagnostic examination was performed for 111 patients with MS and 33 patients with WD. RESULTS: Сognitive disorders were found in less than half of the patients (44.9%) in young patients with multiple sclerosis, whereas in the older age group, almost all patients (91.2%) had various cognitive disorders. Violation of verbal memory, of varying degrees of severity, was found in 69.1% of patients with multiple sclerosis. More than half of the patients with Wilson's disease (66.7%) had impaired productivity of cognitive functions of various degrees of severity. Identified violations were noted in 27.3% of patients (10 patients), among them 7 were aged 40 years or older and had not received pathogenetic treatment for a long time. Violations of mental functions of various nature and severity were found in 78.8% patients with Wilson's disease. They are characterized by dynamic and voluntary-regulatory thinking disorders, such as exhaustion of mental capacity (88.0%), a decrease in its speed characteristics (39.4%) and general productivity, as well as inertia (48.5%), impulsiveness (27.3%) of mental processes. Decrease in criticality of thinking was noted in 33.3% of patients. CONCLUSIONS: The structures that take participation in cognitive functions of the brain are always involved (sooner or later) in the pathogenetic process in patients with multiple sclerosis and hepatocerebral degeneration, that leads to the development of their defects. Therefore, for the treatment of these patients, a comprehensive, pathogenetically justified and personal fixed therapy is necessary. The development of palliative therapy, which will prevent the transformation of cognitive disorders into dementia, may become a prospect for further research.

Unusual presentation of Wilson's disease as proximal renal tubular acidosis with isolated phosphaturia.

An adolescent girl presented with recurrent lower limb fractures and was managed as osteogenesis imperfecta. Low phosphate levels noted on routine investigation were the clue for the phosphaturia and subsequent diagnosis of proximal renal tubular acidosis (RTA). Further, with a history of jaundice, she was diagnosed with Wilson's disease, which was the underlying cause of proximal RTA with isolated phosphaturia and consequent fractures. Standard treatment for Wilson's disease along with supplementation of oral phosphate and bicarbonate led to complete recovery of fragile bones.

Kidney complications of Wilson disease and its treatments: A case report and literature review.

Wilson disease is a rare autosomal recessive genetic disorder of copper metabolism that leads to copper accumulation and subsequent organ dysfunction. While classically considered a condition that primarily affects the liver and nervous system, Wilson disease and its treatments can also result in a wide range of kidney complications as well. We present the case of a 31-year-old female with a longstanding (> 10 year) history of Wilson disease who developed acute-onset nephrotic syndrome including heavy proteinuria, hypoalbuminemia, and edema after being transitioned from zinc to D-penicillamine for copper chelation therapy. Following simple cessation of D-penicillamine (and without any immunosuppressive therapies including corticosteroids), the nephrotic syndrome showed remarkable improvement including complete remission within several months. This review comprehensively summarizes the kidney complications associated with Wilson disease and its treatments.

Acute insomnia as the initial manifestation of Wilson' s disease: A Case Report.

BACKGROUND: Wilson's disease (WD) is a rare autosomal recessive disease that causes impaired copper circulation and excretion. The initial manifestations of WD vary clinically, which makes early diagnosis very difficult. Sleep disorders have been described as common symptoms of WD, but the initial manifestations are in rare cases. CASE REPORT: This study aims to present a patient with acute insomnia as the initial manifestation of WD. Cranial magnetic resonance imaging showed extensive lesions in the bilateral putamen and caudate nucleus, pressure area of corpus callosum, midbrain, and pons. Interestingly, rare but characteristic signs of WD, such as "face of the giant panda," were shown in this case. WD diagnosis was further established by decreased ceruloplasmin level and ATP7B (adenosine-triphosphatase copper transporting beta polypeptide) gene mutations. CONCLUSIONS: We describe acute insomnia as the initial manifestation of WD in a 21-year-old male patient. Timely diagnosis allows for early copper-eliminating pharmacotherapy, which is of high prognostic importance, as the patient may be more responsive to treatment at this point.

Macrothrombocytopenia with leukocyte inclusions in a patient with Wilson disease: a case report and literature review.

BACKGROUND: Wilson disease (WD) is an autosomal recessive disorder caused by homozygous or compound heterozygous mutations in ATP7B. Clinical manifestations primarily involve liver and nervous system lesions, with rarely observed hematologic manifestations. CASE PRESENTATION: In the present case, a patient with WD presented with thrombocytopenia, giant platelets, and Döhle-like cytoplasmic inclusions in the leukocytes. Initially, the May-Hegglin anomaly was considered; however, whole-exome sequencing did not reveal any mutation in the MYH9 gene but a heterozygous mutation was found in (C.2804 C > T, p.T935M) in the ATP7B gene. After two years, the patient developed tremors in his hands, lower limb stiffness, and foreign body sensation in the eyes. Additionally, Kayser-Fleischer rings in the corneal limbus were detected by slit-lamp examination. Copper metabolism test indicated a slight decrease in serum ceruloplasmin. Transmission electron microscopy revealed that the inclusion bodies of leukocytes were swollen mitochondria. Mass spectrometry analysis showed that the copper levels were almost 20-fold higher in the leukocytes of the patient than in those of the control group. Based on the Leipzig scoring system, a diagnosis of WD was confirmed. Zinc sulfate treatment ameliorated the patient's symptoms and enhanced platelet, serum ceruloplasmin, and albumin levels. CONCLUSIONS: In conclusion, this case represents the first documented instance of WD presenting as thrombocytopenia, giant platelets, and Döhle-like cytoplasmic inclusions in the leukocytes. Excessive cellular copper accumulation likely underlies these findings; however, understanding precise mechanisms warrants further investigation.

Neurological Wilson's disease without hepatic involvement in an adolescent female.

A female adolescent presented with a 9 month history of progressive involuntary movements, initially manifesting as finger tremors and evolving into flinging motions of the extremities, resulting in an inability to walk over the last 4 months. Concurrently, she developed dysarthria. Neurologically, she exhibited normal power, rigidity and brisk deep tendon reflexes, with a downgoing plantar reflex. Contrast-enhanced MRI revealed hyperintensity in bilateral caudate lobes, basal ganglia and pons, indicative of Wilson's disease. Liver function tests and ultrasound were normal while Kayser-Fleischer rings were confirmed by slit lamp examination. Serum ceruloplasmin was low, 24-hour urine copper was elevated (125.5 mcg) and whole exome sequencing identified a heterozygous ATP7B mutation, confirming the diagnosis. Isolated neurological involvement without hepatic involvement is an extremely rare presentation and needs clinical expertise to delineate Wilson's disease as a possible aetiology.

Characterization of renal damage in Wilson's disease-Detailed analysis of 20 Chinese cases.

OBJECTIVE: Copper metabolism disorder disease is thought to contribute to renal symptoms in Wilson's disease (WD). Nonetheless, there remains limited knowledge regarding the precise characteristics of renal damage in individuals with Wilson's disease, encompassing clinical presentations, biochemical indicators, imaging findings, and renal histopathological alterations. METHODS: In this study, 20 patients diagnosed with Wilson's disease and renal involvement were enrolled in our hospital. These patients met the validated European criteria for Wilson's disease, and those with primary kidney disease or secondary renal damage caused by other underlying conditions were excluded. The baseline data of patients were collected. Various biochemical and hematological parameters were monitored. Biochemical examinations were measured using an automatic biochemistry analyzer, blood routines were tested by flow cytometry analysis, 24-h urine copper was tested by atomic absorption spectrophotometer. Besides, CER was measured by turbidimetric immunoassay with a Hitachi 7020 automatic biochemical analyzer (the intraplate and interplate coefficients of variation were 2.7% and 5.13% respectively). Copper oxidase was tested by colorimetric method using p-phenylenediamine hydrochloride (the intraplate and interplate coefficients of variation were both <10%). Diagnostic criteria for Wilson's disease and kidney damage were established based on the European Association for the Study of the Liver (EASL) and CKD Epidemiology Collaboration guidelines, respectively. Statistical analysis was carried out using t-tests and χ2 tests in SPSS 22.0 software. Significant differences were considered when P<0.05. RESULTS: In those patients with Wilson's disease-related renal damage, edema, gross hematuria, oliguria, and lumbar pain were present in most patients. Microscopic haematuria and proteinuria were also observed in 19 patients. Compared to patients without renal involvement, those with renal complications exhibited a significant increase in white blood cell (WBC) and neutrophil counts (P<0.05). Additionally, patients with renal damage showed a noteworthy rise in both diastolic and systolic blood pressure, along with a significant reduction in hemoglobin levels (P<0.05). Color Doppler ultrasound results revealed diffuse lesions in both kidneys in 12 patients, renal cysts were identified in 5 patients, and 2 patients exhibited abnormal renal blood flow signals. Meanwhile, varying degrees of IgA, IgM, IgG-based immunoglobulins, complement C3 and C1q deposition in the glomerular mesangial area were detected by immunofluorescence. Furthermore, renal puncture biopsy results revealed a spectrum of findings, including minimal change nephrosis in 1 case, IgA nephropathy in 3 cases, atypical membranous proliferative nephropathy in 2 cases, and focal segmental glomerulosclerosis in 1 case. CONCLUSION: This study comprehensively elucidates the distinct attributes of renal damage related to Wilson's disease, while also speculating that renal dysfunction in Wilson's disease could be linked to immune complex deposition. Depending on the underlying pathogenesis, kidney injury associated with Wilson's disease can be classified as primary or secondary. To slow down the progression of renal impairment, it is essential to undergo a renal biopsy pathological examination as early as possible to clarify the type of impairment and take the appropriate treatment.

Analysis of risk factors for fatty liver disease in children with Wilson's disease.

BACKGROUND AND AIMS: Many children with Wilson's disease are complicated with dyslipidemia. The aim of this study was to investigate the risk factors for the development of fatty liver disease (FLD) in children with Wilson's disease. METHODS: We evaluated sex, age, weight, the disease course, treatment course, clinical classification, alanine transaminase (ALT), aspartate transaminase, γ-glutamyl transpeptidase, total biliary acid, triglyceride, total cholesterol, high-density lipoprotein cholesterol, low-density lipoprotein cholesterol, homocysteine, uric acid, fibrinogen (FBG), creatinine, procollagen III N-terminal propeptide, laminin, hyaluronic acid, type IV collagen, and performed receiver operating characteristic curve analysis to investigate the forecast value of individual biochemical predictors and combined predictive indicators to evaluate FLD in Wilson's disease. RESULTS: The multivariate logistic regression analysis revealed that ALT [odds ratio (OR), 1.011; 95% confidence interval (CI), 1.004-1.02; P  = 0.006], uric acid (OR, 1.01; 95% CI, 1.002-1.018; P  = 0.017), FBG (OR, 3.668; 95% CI, 1.145-13.71; P  = 0.037), creatinine (OR, 0.872; 95% CI, 0.81-0.925; P  < 0.001), and laminin (OR, 1.01; 95% CI, 1.002-1.018; P  = 0.017) acted as independent risk factors in Wilson's disease complicated with FLD. The receiver operating characteristic curves for combined predictive indicators demonstrated an area under the curve values of 0.872, which was found to be a significant predictors for FLD in Wilson's disease. CONCLUSIONS: We screened out the most important risk factors, namely ALT, uric acid, creatinine, FBG, and laminin for Wilson's disease complicated with FLD. The joint prediction achieved is crucial for identifying children with Wilson's disease complicated with FLD.

Pregnancy in Liver and Kidney Female Recipient: A Case Report.

Deterioration of kidney function after orthotopic liver transplantation is a common complication that may occur after perioperative acute kidney injury (AKI) and preexisting or developing chronic kidney disease (CKD). AKI is described in the early postoperative period in more than half of recipients, whereas the main cause of CKD is pharmacotherapy. When end-stage renal failure occurs, patients may be qualified for additional transplantations. We present a rare case of a 27-year-old woman who, as a teenager, underwent 2 liver transplantations due to Wilson's disease. Surgeries were complicated by systemic infection and multiple organ failure. The kidneys did not regain their function, and therefore, after 6 months of dialysis, the organ was transplanted. Three organ transplantations were performed. Due to the patient's willingness and good graft functions, the patient started trying to conceive. Three months before successful conception, immunosuppressive therapy was changed to tacrolimus and azathioprine. Pregnancy was complicated by pregnancy-induced hypertension, and its course was closely monitored. Organ functions and immunosuppressive therapy were regularly assessed. Due to the pre-eclampsia developed in the 35th week of gestation, a Cesarean delivery was performed, and she gave birth to a daughter weighing 2350 g (Apgar 7-7-8). The patient decided to breastfeed. There were no obstetric complications or graft function deterioration in the early postpartum period. Mother and daughter left home after 7 days of hospitalization. The presented clinical situation proves that multiorgan transplantation recipients can have a successful pregnancy without impairing graft functions. Therefore, the pregnancy requires adequate preparation and increased care.

Clinical profile of adult and pediatric patients with hepatic Wilson's disease.

BACKGROUND: The clinical profile varies in patients with Wilson's disease (WD). There is paucity of data regarding adult and pediatric patients with hepatic WD. METHODS: As many as 140 consecutive patients diagnosed with hepatic WD between December 2006 and January 2021 were included in the study. Data was collected regarding the demographic parameters, clinical presentation, extrahepatic organ involvement, liver histology and laboratory investigations. Adult and children (0-14 years) with hepatic WD were compared regarding these features. RESULT: Eighty-eight adults and 52 children were included in the study. The median age of presentation was 17 years (range: 1.1-42 years). Male preponderance was seen (adult 68/88, 69%; children 40/52, 77%). Adults as compared to children presented more commonly as cirrhosis (52/88 vs. 15/52, p = 0.0005) and with hepatic decompensation (35/88 vs. 9/52, p = 0.005). Presentation with acute-on-chronic liver failure (ACLF) was more common in children (10/52 vs. 2/88, p = 0.0005). Twenty-eight-day mortality was 50% (5/10) in children and none in adults presenting with ACLF. Nazer's Prognostic Index (≥ 7) and New Wilson Index were more accurate in predicting mortality among children with ACLF with AUROC 1, while AARC (APASL ACLF Research Consortium) was less accurate with AUROC 0.45. Liver histology findings were similar in adults and children. Extrahepatic involvement was also similar. (8/88 in adults vs. 3/52 children, p value 0.48). CONCLUSION: Most patients with WD present as cirrhosis in adulthood. ACLF is more common in children. Nazer's prognostic index and new Wilson Index score are accurate in predicting mortality in children with ACLF.

Pregnancies in Women After Liver Transplant due to Wilson's Disease-Case Series.

Wilson's disease is a rare autosomal recessive disorder. Due to a defect in membrane copper transporter, copper is not excreted in the bile and accumulates in the tissues. The only treatment for acute liver failure in Wilson's disease is a liver transplant. AIM: Assessment of the course of pregnancies and comparison of obstetric outcomes in female liver transplant recipients in the course of Wilson's disease. METHODOLOGY: Retrospective analysis of data of women, who were pregnant and gave birth in the years: 2017 to 2023. Evaluation of their liver function used pharmacotherapy and obstetric outcomes. RESULTS: We recorded 11 pregnancies in liver transplantation recipients due to Wilson's disease. Ten single pregnancies and 1 twin (DCDA) were observed. In all pregnancies, graft functions and immunosuppressive drug concentrations were monitored. Three women suffered from epilepsy, one was diagnosed with psychiatric disorder. Two were diagnosed with cholestasis, and another 2 with gestational diabetes. Two of them were treated for pregnancy-induced hypertension and 2 developed preeclampsia. Deterioration of liver function parameters in pregnancy was observed in 2 cases. In total, 8 full-term babies were born and 4 late-preterm, including twins at 35 weeks of gestation. Seven pregnancies were delivered by caesarean section and 4 delivered vaginally. No complications in early postpartum period have been reported. CONCLUSIONS: Women with Wilson's disease treated with organ transplantation have a chance of successful pregnancies and deliveries.

Portal hypertension and its prognostic implications in patients with Wilson's disease.

BACKGROUND AND AIMS: Wilson's disease may progress to cirrhosis and clinically significant portal hypertension (CSPH). We aimed to assess the prevalence and prognostic impact of CSPH-related features on hepatic decompensation and transplant-free survival in patients with Wilson's disease. METHODS AND RESULTS: About 137 patients with Wilson's disease (Leipzig score ≥4), followed for a median observation period of 9.0 (3.9-17.7) years at the Vienna General Hospital, were included in this retrospective study. Overall, 49 (35.8%) developed features of CSPH: 14 (10.2%) varices, 40 (29.2%) splenomegaly, 20 (14.6%) ascites, 18 (13.1%) hepatic encephalopathy and 3 (2.2%) experienced acute variceal bleeding. Overall, 8 (5.8%) patients died, including three deaths caused by CSPH-related complications. Within 10 years, compensated patients with features of CSPH developed more decompensation events (8.3% vs. 1.5% in patients without CSPH, p = 0.3) and had worse transplant-free-survival (91.7% vs. 98.6%), which further declined in patients with hepatic decompensation (26.7%, log-rank: p < 0.0001). Patients with liver stiffness <15 kPa and normal platelets (≥150 G/L) were less likely to decompensate within 10 years (2.6% vs. 8.4%, p = 0.002) and had a better 10-year transplant-free-survival (97.7% vs. 83.9%, p = 0.006). CONCLUSIONS: Patients with Wilson's disease developing features of CSPH are at an increased risk for hepatic decompensation and liver-related mortality, warranting for regular screening and timely initiation of effective CSPH-directed treatments.

Construction of a nomogram for predicting compensated cirrhosis with Wilson's disease based on non-invasive indicators.

BACKGROUND: Wilson's disease (WD) often leads to liver fibrosis and cirrhosis, and early diagnosis of WD cirrhosis is essential. Currently, there are few non-invasive prediction models for WD cirrhosis. The purpose of this study is to non-invasively predict the occurrence risk of compensated WD cirrhosis based on ultrasound imaging features and clinical characteristics. METHODS: A retrospective analysis of the clinical characteristics and ultrasound examination data of 102 WD patients from November 2018 to November 2020 was conducted. According to the staging system for WD liver involvement, the patients were divided into a cirrhosis group (n = 43) and a non-cirrhosis group (n = 59). Multivariable logistic regression analysis was used to identify independent influencing factors for WD cirrhosis. A nomogram for predicting WD cirrhosis was constructed using R analysis software, and validation of the model's discrimination, calibration, and clinical applicability was completed. Due to the low incidence of WD and the small sample size, bootstrap internal sampling with 500 iterations was adopted for validation to prevent overfitting of the model. RESULTS: Acoustic Radiation Force Impulse (ARFI), portal vein diameter (PVD), and serum albumin (ALB) are independent factors affecting WD cirrhosis. A nomogram for WD cirrhosis was constructed based on these factors. The area under the ROC curve (AUC) of the model's predictive ability is 0.927 (95% CI: 0.88-0.978). As demonstrated by 500 Bootstrap internal sampling validations, the model has high discrimination and calibration. Clinical decision curve analysis shows that the model has high clinical practical value. ROC curve analysis of the model's rationality indicates that the model's AUC is greater than the AUC of using ALB, ARFI, and PVD alone. CONCLUSION: The nomogram model constructed based on ARFI, PVD, and ALB can serve as a non-invasive tool to effectively predict the risk of developing WD cirrhosis.

Changing etiological spectrum of acute liver failure.

BACKGROUND AND OBJECTIVES: Acute liver failure (ALF) is an uncommon but potentially dramatic syndrome characterized by massive hepatic necrosis and has a very high mortality rate of 50% to 75% without liver transplantation. This study is aimed at analyzing the etiological spectrum of ALF patients and compare these with ALF mimics such as malaria, dengue fever and other tropical infectious diseases. METHODS: The study population included patients who presented with ALF and ALF mimics in a tertiary care center over two years. We retrospectively analyzed the patient case files and a comparison was made concerning the baseline demographic details, clinical profile, laboratory values and outcomes. RESULTS: Sixty-three patients were assessed, with 32 in ALF and 31 in ALF mimics group. The most common cause for ALF was hepatitis A virus (25%), followed by hepatitis B virus (18.7%), drug-induced liver injury (12.7%), autoimmune hepatitis (12.5%), hepatitis E virus (9.3%) and Wilson's disease (6.25%). In the ALF mimics group, malaria (58.06%) was the most common cause, followed by dengue fever (16.1%), leptospirosis (12.9%) and scrub typhus (12.9%). Patients in the ALF mimics group had significantly higher incidence of fever (p = 0.001), hepatosplenomegaly (p = 0.01), anemia (p = 0.02) and shorter jaundice to encephalopathy duration (p = 0.032) as compared to the ALF group, while higher transaminase levels (p = 0.03), bilirubin (p = 0.01), prothrombin time (p = 0.01), serum ammonia (p = 0.02) and mortality (p = 0.02) were observed in ALF patients. CONCLUSIONS: The most common cause for ALF was hepatitis A virus, followed by hepatitis B virus, while in ALF mimics it was malaria followed by dengue fever, in our study. Patients of ALF mimics can have similar presentation, but a high index of suspicion and awareness is required to identify the common infectious ALF mimics for early diagnosis.

Systemic lupus erythematosus combined with Wilson's disease: a case report and literature review.

BACKGROUND: Systemic lupus erythematosus (SLE) and Wilson's disease (WD) are both systemic diseases that can affect multiple organs in the body. The coexistence of SLE and WD is rarely encountered in clinical practice, making it challenging to diagnose. CASE REPORT: We present the case of a 9-year-old girl who initially presented with proteinuria, haematuria, pancytopenia, hypocomplementemia, and positivity for multiple autoantibodies. She was diagnosed with SLE, and her blood biochemistry showed elevated liver enzymes at the time of diagnosis. Despite effective control of her symptoms, her liver enzymes remained elevated during regular follow-up. Laboratory tests revealed decreased serum copper and ceruloplasmin levels, along with elevated urinary copper. Liver biopsy revealed chronic active hepatitis, moderate inflammation, moderate-severe fibrosis, and a trend towards local cirrhosis. Genetic sequencing revealed compound heterozygous mutations in the ATP7B gene, confirming the diagnosis of SLE with WD. The girl received treatment with a high-zinc/low-copper diet, but her liver function did not improve. Upon recommendation following multidisciplinary consultation, she underwent liver transplantation. Unfortunately, she passed away on the fourth day after the surgery. CONCLUSIONS: SLE and WD are diseases that involve multiple systems and organs in the body, and SLE complicated with WD is rarely encountered in the clinic; therefore, it is easy to misdiagnose. Because penicillamine can induce lupus, it is not recommended. Liver transplantation is indicated for patients with liver disease who do not respond to medical treatment with WD. However, further research is needed to determine the optimal timing of liver transplantation for patients with SLE complicated with WD.

Taste and smell function in Wilson's disease.

OBJECTIVE: Wilson's disease (WD) is a metabolic disorder associated with abnormal copper metabolism that results in hepatic, psychiatric, and neurologic symptoms. No investigation of taste function has been made in patients with WD, although olfactory dysfunction has been evaluated. METHODS: Quantitative taste and smell test scores of 29 WD patients were compared to those of 790 healthy controls. Taste was measured using the 53-item Waterless Empirical Taste Test (WETT®) and smell using the 40-item revised University of Pennsylvania Smell Identification Test (R-UPSIT®). Multiple linear regression analysis controlled for age and sex. RESULTS: Average WETT® scores did not differ meaningfully between WD and control subjects (respective medians & IQRs = 32 [28-42] & 34 [27-41]); linear regression coefficient = 1.19, 95% CI [-0.81, 3.19], p = 0.242). In contrast, WD was associated with significantly reduced olfactory function [respective median (IQR) R-UPSIT® scores = 35 (33-37) vs. 37 (35-38); adjusted linear regression coefficient = -1.59, 95% CI [-2.34, -0.833]; p < 0.001)]. Neither olfaction nor taste were influenced by WD symptom subtype [23 (79.3%) were hepatic-predominant; 6 (20.7%) neurologic predominant]; R-UPSIT®, p = 0.774; WETT®, p = 0.912). No effects of primary medication or years since diagnosis (R-UPSIT®, p = 0.147; WETT®, p = 0.935) were found. Weak correlations were present between R-UPSIT® and WETT® scores for both control (r=0.187, p < 0.0001) and WD (r=0.237) subjects, although the latter correlation did not reach the 0.05 α level (p = 0.084). CONCLUSION: Although WD negatively impacts smell function, taste is spared. Research is needed to understand the pathophysiologic mechanisms responsible for this divergence.

Assessment of sleep disturbance in patients with Wilson's disease.

BACKGROUND: Wilson's disease (WD) is frequently manifested with anxiety, depression and sleep disturbance; this investigation aimed to elucidate these manifestations and identify the influencing factors of sleep disturbance. METHODS: Sleep disturbance, anxiety and depression were compared in 42 WD and 40 age- and gender-matched healthy individuals. 27 individuals indicated a neurological form of the disease (NV), and 15 had a non-neurological variant (NNV). RESULTS: This investigation revealed that the Parkinson's disease sleep scale (PDSS) score of WD individuals was lower, whereas their Epworth Sleepiness Scale (ESS), Pittsburgh sleep quality index (PSQI), Hamilton Anxiety Scale (HAMA), and Hamilton Depression Scale (HAMD) scores were higher than the healthy individuals (p < 0.05). Furthermore, the WD subjects had markedly increased prevalence of poor sleep quality, anxiety, and depression than healthy individuals (p < 0.05). Subgroup analysis showed that NV subjects had significantly higher scores on the UWDRS, PSQI, HAMA, and HAMD scales than those in the NV group, as well as higher rates of EDS, anxiety, and depression (p < 0.05). In patients with sleep disturbance, we identified UWDRS, neurological variant, and depression as associated factors. The linear regression model demonstrated depression as the dominant risk factor. CONCLUSIONS: Depression is highly correlated with and is a determinant of sleep disturbance in WD patients.