Epidemiology, Evaluation and Management of Wilson Disease: Review Article

Wilson disease (hepatolenticular degeneration) is a rare autosomal recessive ailment characterized by aberrant copper buildup in the body, with the brain, liver, and cornea being notably affected. Wilson illness is caused by a mutation in the ATP7B gene on chromosome 13, which regulates the protein transporter that excretes excess copper into the bile and out of the body. So far, over 500 mutations have been discovered. The most common treatment for WD is D-penicillamine (D-PCA). Patients with severe spasms, deformities, or dysphonia, as well as those who are allergic to D-PCA, should avoid it. Early Diagnosis is a key factor in saving patient’s live, and thus prober investigation should be done as soon as possible. Family screening is a must when a patient is diagnosed to role out any other patients in the family with the disease and because of the strong genetic factor impacting the disease. early detection is critical for initiating therapy in the early, asymptomatic stages of the disease, rather than when liver decompensation or extensive neurological irreversible harm has already occurred. In this circumstance, the optimum technique is to finish copper investigations in the index patient's first- and second-degree relatives. In the present article we’ll be discussing disease prevalence, etiology and more importantly diagnosis and management.

Inhibition of ASIC1a-Mediated ERS Improves the Activation of HSCs and Copper Transport Under Copper Load

Hepatolenticular degeneration (HLD) is an autosomal recessive genetic disease caused by the toxic accumulation of copper in the liver. Excessive copper will disrupt the redox balance in cells and tissues, causing ischemia, hypoxia, and inflammation. Acid-sensitive ion channel 1a is a cationic channel activated by extracellular acid and allowing Ca2+ and Na+ to flow into cells. Its expression appears in inflammation, arthritis, fibrotic tissue, and damaged environment, but its role in hepatolenticular degeneration has not been studied. This study established a Wistar rat model of high copper accumulation and used CuSO4 to induce the activation of HSC-T6 in an in vitro experiment. In vivo, Wistar rats were examined to determine the serum copper concentration, serum ALT and AST activities, and liver copper accumulation, and liver tissue HE staining and immunohistochemical analyses were conducted. The expression of ASIC1a, α-SMA, Collagen-Ι, GRP78, XBP1, ATP7B, and CCS were detected. Besides, immunofluorescence technology can detect the expression of the phosphorylated protein in vitro. It is suggested that ASIC1a is involved in the quality control of the endoplasmic reticulum, which degrades mutant ATP7B and increases the accumulation of copper. After blocking or silencing the expression of ASIC1a, ELISA can detect the level of inflammatory factors, the expression of endoplasmic reticulum stress-related factors, and ATP7B was improved in a higher copper environment reduction of copper deposition was observed in liver Timm’s staining. Collectively, we conclude that ASIC1a is involved in the HSC activation induced by copper accumulation and promotes the occurrence of hepatolenticular fibrosis.

Neurological presentation of Wilson’s disease without overt hepatic involvement

Wilson disease (hepatolenticular degeneration) is a rare autosomal recessive disease. Here, we report a child affected by Wilson disease with only neurological manifestations without hepatic involvement.

Platelet safety range before splenectomy for hypersplenism : based on 244 cases of splenectomy in hepatolenticular degeneration patients

Background and study aims : To investigate the safety and efficacy of splenectomy for hepatolenticular degeneration (HLD) patients with PLT less than 20 × 109/L. Patients and methods : A total of 244 HLD patients with hyper-splenism underwent splenectomy. According to the preopera-tive PLT values, the patients were divided into three groups : group A of 53 patients with PLT < 20 × 109/L ; group B of 92 patients with 20 × 109/L ≤ PLT ≤ 30 × 109/L ; group C of 99 patients with PLT > 30 × 109/L. General information including : blood cell counts, liver function , coagulation function 1 day before sugery and 1, 7, 14 days after surgery ; intraoperative blood loss ; operation time ; vital signs at the beginning, at 60 minutes and the end of the operation. Pressure and blood oxygen ; postoperative drainage ; postoperative complications and mortality. Results : Blood cell counts, liver function, and coagulation func-tion were improved after splenectomy in three groups (P<0.05) ; there was no significant difference in blood loss, operation time, vital signs during the operation, postoperative drainage, postoper-ative complications and mortality between three groups (P>0.05). Conclusion : For HLD patients with hypersplenism, it is safe and effective to conduct splenectomy under PLT < 20 × 109/L.

Wilson's Disease Complicated with Massive Cerebral Infarction：A Case Report

Hepatolenticular degeneration, also known as Wilson's disease, is an autosomal recessive disorder of copper metabolism that causes rare diseases with significant morbidity and mortality. To our knowledge, no cases of hepatolenticular degeneration with massive cerebral infarction have been reported up to now. Here we present a case of hepatolenticular degeneration with massive cerebral infarction. Early, appropriate diagnosis and initiation of proper therapy could avoid further progression and reduce complications of the disease.

Removal of Copper from Industrial Wastewater and its Relationship with Wilson's disease

Background:Wilson’s illness, or hepatolenticular degeneration, is an autosomal passive issue that outcomes from an accumulation of copper prevalently in the liver and brain. The aggregation is happen because of imperfect biliary discharge of copper. Current information demonstrates that grown-up people need to ingest about 0.75 mg of copper every day to continue a parity. Because of a hereditary imperfection, people with Wilson’s ailment can't discharge the abundance copper, bringing about a progressive develop of copper in the body. Substantial metals are the most hurtful of the concoction toxins and are of specific worry because of their poison levels to people. From this poisonous metal copper, which has impacts in drinking water on the gastrointestinal tract, yet there is some with respect to the drawn out impacts of copper on delicate populaces, for example, bearers of the quality for Wilson’smalady and other metabolic issue of copper homeostasis. Method:We picked as a characteristic adsorbent in this work the Moringa Oleifera Seeds (MOSs) from Mali assortment, which could be a practical and earth safe strategy for water sanitization. All examinations were directed at room temperature, andafter being permitted to represent two hours, the examples were broke down utilizing the Atomic Absorption Spectrophotometer (AAS). The seeds of Moringawere set up by taking around 1 g of the seed squashed and blending it in with around 20 cm3 of water to be decontaminated in three distinct measuring utensils. Result:The different arrangements after filtration, indicated an expanded thickness in the amount of copper, which demonstrates the viability of the cleansing intensity of the seeds of MO. The best consequences of adsorption were for 30 min of contact time. We had half copper evacuation. The impact of contact time is significant in biosorption investigations to decide the harmony time required for the take-up of metal particles by the MOSs. Conclusion:In this investigation, the MOS from Mali were demonstrated to be a proficient regular adsorbent material of copper from fluid arrangements. The limit of the MOS to evacuate copper relies upon numerous models as; plant assortment and states of examinations. Our examination is going on the investigation of evacuation parameters, for example, contact time, pH, temperature, molecule size, sorbent portion, and introductory metal fixation.

Significance of Amylase Monitoring in Peritoneal Drainage Fluid after Splenectomy: A Clinical Analysis of Splenectomy in 167 Patients with Hepatolenticular Degeneration

Different kinds of complications after splenectomy in hepatolenticular degeneration patients with hypersplenism have been reported in the past decades, but studies on pancreatic fistula and the corresponding targeted prevention and treatment after splenectomy still remain much unexplored. The present work investigated the pathogenic factors of pancreatic fistula after splenectomy and the variation tendency of amylase in drainage fluid, aiming to verify the significance of monitoring amylase in the abdominal drainage fluid in the early diagnosis of pancreatic fistula after splenectomy. One hundred sixty-seven patients with hepatolenticular degeneration and hypersplenism who underwent splenectomy in the First Affiliated Hospital of Anhui University of Traditional Chinese Medicine from January 2016 to August 2018 were selected and analyzed. The amylase in the abdominal drainage fluid was monitored routinely after splenectomy. We also conducted the statistics on the incidence of different types of pancreatic fistula and analyzed the influence factors of pancreatic fistula formation. After splenectomy, biochemical fistula occurred in 11 patients (6.6%), grade B fistula in six patients (3.6%), grade C fistula in one patient (0.6%), and the incidence of pancreatic fistula was 4.2 per cent (biochemical fistula excluded). The amylase in the peritoneal drainage fluid was closely concerned with the incidence of pancreatic fistula according to our statistics. Furthermore, by analyzing the different influence factors of pancreatic fistula, Child-Pugh grading of liver function ( P = 0.041), pancreatic texture ( P = 0.029), degree of splenomegaly ( P = 0.003), and operative method ( P = 0.001) were supposed to be closely related to the formation of pancreatic fistula. Monitoring of amylase in peritoneal drainage fluid is regarded as an important physiological parameter in the early diagnosis of pancreatic fistula after splenectomy, which provides effective clinical reference and plays a significant role in preventing the occurrence and development of pancreatic fistula.