Wilson Disease

1996 ◽  
Vol 17 (12) ◽  
pp. 448-448
Author(s):  
Philip O. Ozuah
Keyword(s):  
Biliary Excretion ◽  
Wilson Disease ◽  
Autosomal Recessive ◽  
Copper Metabolism ◽  
The Body ◽  
Hepatolenticular Degeneration ◽  
Dietary Copper ◽  
Hepatic Copper ◽  
Excess Copper ◽  
Excessive Accumulation

Wilson disease (hepatolenticular degeneration) is an autosomal recessive, inherited disorder of copper metabolism resulting in excessive accumulation of copper in the liver, brain, and other organs of the body. The manifestations of the disease are related directly to this accumulation of copper. Copper homeostasis normally is a product of the balance between intestinal absorption of dietary copper and hepatic biliary excretion of excess copper. In Wilson disease, incorporation of hepatic copper into ceruloplasmin is defective and excretion of copper in the bile is reduced. A low level of ceruloplasmin, which until a few years ago was erroneously considered to be the basis for the disease, is a consequence of the underlying metabolic defect.

scholarly journals Epidemiology, Evaluation and Management of Wilson Disease: Review Article

2021 ◽  
pp. 94-103
Author(s):  
Mohammed Salah Hussein ◽  
Turki Mohammed A. Alshehri ◽  
Nada Muidh Aloufi ◽  
Alghamdi, Ibrahim Saeed A. ◽  
Al zahrani, Adel Abdulrahman S. ◽  
...  
Keyword(s):  
Wilson Disease ◽  
Autosomal Recessive ◽  
The Body ◽  
Hepatolenticular Degeneration ◽  
Excess Copper ◽  
Liver Decompensation ◽  
Optimum Technique ◽  
The Family ◽  
Key Factor ◽  
The Brain

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.

A defect of biliary excretion of copper in copper-laden Bedlington terriers

1982 ◽  
Vol 243 (3) ◽  
pp. G231-G236 ◽  
Author(s):  
Le-Chu Su ◽  
Charles A. Owen ◽  
Paul E. Zollman ◽  
Robert M. Hardy
Keyword(s):  
Biliary Excretion ◽  
Biliary Obstruction ◽  
Autosomal Recessive ◽  
Wilson’S Disease ◽  
Wilson's Disease ◽  
Copper Excretion ◽  
Copper Absorption ◽  
Excessive Accumulation

Copper-laden Bedlington terriers were found to absorb copper normally, based on the ratio of 64Cu in bile and in plasma ceruloplasmin after oral and intravenous doses of the radionuclide. The excessive accumulation of the copper in Bedlington terriers was due to impaired biliary excretion of the metal, The abnormal Bedlington pattern was simulated in normal dogs by biliary obstruction. Although the Bedlington terriers excreted more copper in their urine than normal, the amount was far less than that accumulated secondary to inadequate biliary excretion. These abnormalities are shared by patients with Wilson's disease, both conditions being inherited on an autosomal recessive basis. copper absorption; copper excretion; radiocopper; Wilson's disease Submitted on May 5, 1981 Accepted on March 30, 1982

scholarly journals Acute-Onset Optic Neuropathy in Wilson’s Disease

2019 ◽  
Vol 9 (3) ◽  
pp. 520-525
Author(s):  
Liyung Tiffany Chou ◽  
Derek Horkey ◽  
Mark Slabaugh
Keyword(s):  
Autosomal Recessive ◽  
Wilson’S Disease ◽  
Vision Loss ◽  
Wilson's Disease ◽  
Acute Onset ◽  
Copper Accumulation ◽  
Hepatolenticular Degeneration ◽  
Ocular Manifestations ◽  
Excess Copper ◽  
Autosomal Recessive Condition

Wilson’s disease (WD), also known as hepatolenticular degeneration, is a rare autosomal recessive condition of excess copper accumulation that is most commonly associated with hepatic, neurologic, psychiatric, and ocular manifestations. While Kayser-Fleischer rings and sunflower cataracts are well known in WD, visual impairment is very rare. We report the case of a 20-year-old female who presented with acute liver failure and associated monocular vision loss. WD was found to be a cause of her liver disease and decreased vision.

scholarly journals Copper Toxicosis with Hemolysis and Hemoglobinuric Nephrosis in Three Adult Boer Goats

2009 ◽  
Vol 21 (3) ◽  
pp. 395-400 ◽  
Author(s):  
Chantelle C. Bozynski ◽  
Tim J. Evans ◽  
Young Kim Dae ◽  
Gayle C. Johnson ◽  
Jennifer M. Hughes-Hanks ◽  
...  
Keyword(s):  
Large Scale ◽  
Copper Metabolism ◽  
Dairy Goats ◽  
Dietary Copper ◽  
Nutritional Factors ◽  
Copper Toxicosis ◽  
Hepatic Copper ◽  
Liver And Kidney ◽  
Boer Goats ◽  
Current Report

Acute and, particularly, chronic copper exposures, along with defects in hepatic copper metabolism, altered excretion of copper, and/or nutritional imbalances between copper and other trace elements, can lead to hepatic accumulation of copper and primary copper toxicosis. There is interspecies variation in susceptibility to copper toxicosis, with sheep being the species most likely to develop this condition. Adult dairy goats and Boer crosses are generally considered resistant to chronic copper toxicosis, especially the hemolytic stage of this disease. The current report is rather unusual in that it describes instances of naturally occurring copper toxicosis with hemolysis and hemoglobinuric nephrosis in 3 adult Boer goats. In 2 of these goats, a possible source of excessive dietary copper was investigated but not definitively identified. In the third goat, the etiologic factors associated with the copper toxicosis were not determined. It appears that mature Boer goats are susceptible to the hemolytic stage of chronic copper toxicosis, which was not observed in a recent, large-scale copper intoxication involving lactating dairy goats. Copper analyses on both liver and kidney samples were necessary to confirm the diagnosis of copper toxicosis in all 3 goats. All feedstuffs associated with instances of copper toxicosis should be analyzed for iron, molybdenum, sulphur, and zinc as well as copper to determine what nutritional factors are contributing to the pathogenesis of this disease. Consideration also should be given to the ingestion of hepatotoxic plants and other toxic exposures, which could predispose an animal to secondary chronic copper toxicosis.

scholarly journals Wilson Hastalığı Olan Gebede Sezaryen Ameliyatında Spinal Anestezi Uygulaması

2021 ◽  
Author(s):  
Harun Özmen ◽  
Bahar Aydınlı
Keyword(s):  
Case Report ◽  
Pregnant Woman ◽  
Chronic Disease ◽  
Biliary Excretion ◽  
Wilson Disease ◽  
Autosomal Recessive ◽  
Wilson’S Disease ◽  
Chelation Therapy ◽  
Wilson's Disease

Wilson's disease is an autosomal recessive inherited chronic disease that occurs as a result of the deposition of copper in organs and tissues with impaired biliary excretion. With this case report, we aimed to share our experience in cesarean anesthesia in a pregnant woman with Wilson disease who had irregular medical follow-up and underwent chelation therapy.

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

2020 ◽  
Author(s):  
ying ma ◽  
Juan zhang ◽  
hong chen ◽  
YUNBAO WANG
Keyword(s):  
Case Report ◽  
Cerebral Infarction ◽  
Rare Diseases ◽  
Autosomal Recessive ◽  
Wilson’S Disease ◽  
Copper Metabolism ◽  
Autosomal Recessive Disorder ◽  
Wilson's Disease ◽  
Significant Morbidity ◽  
Hepatolenticular Degeneration

Abstract 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.

scholarly journals A case of Wilson disease with the ATP7B mutation presenting movement disorders

2021 ◽  
Vol 12 ◽  
pp. 303
Author(s):  
Huong Van Nguyen ◽  
Diep Ngoc Nguyen ◽  
Huong Thi Nguyen
Keyword(s):  
Wilson Disease ◽  
Blood Test ◽  
Autosomal Recessive ◽  
Medical Condition ◽  
Genetic Disorders ◽  
Brain Mri ◽  
The Body ◽  
Copper Accumulation ◽  
Test Results ◽  
Autosomal Recessive Condition

Background: Wilson disease is an autosomal recessive condition manifested when abnormal copper accumulation in the body particularly involving many organs such as brain, liver, and cornea. Diagnosis is challenging with the completion of tests in blood and urine, a liver biopsy, and clinical evaluation. ATP7B mutations with more than 600 identified variants are the genetic disorders of Wilson disease. Case Description: We report an adolescent case with no family history presented with extrapyramidal dyskinesia. Other symptoms include liver cirrhosis and Kayser–Fleischer ring. The typical presentation of blood test results and brain MRI images helps us to suspect Wilson disease in this case. We confirmed to have a p.R778L form and a p.S105X form in ATP7B mutations. After combining therapy with trihexyphenidyl and trientine, the patient’s medical condition was stable and no side effects were observed. Conclusion: Screening for the diagnosis of Wilson disease is essential in helping patients benefit from early treatment and genetic counseling.

Wilson Disease in Children: Diagnosis and Management Update

KYAMC Journal ◽  
2021 ◽  
Vol 11 (4) ◽  
pp. 212-217
Author(s):  
Md Benzamin ◽  
Rafiqul Islam ◽  
Nayma Rahman ◽  
Sharmistha Ghosal ◽  
Rubaiyat Alam
Keyword(s):  
Liver Disease ◽  
Clinical Features ◽  
Wilson Disease ◽  
Autosomal Recessive ◽  
Storage Disease ◽  
Variable Degree ◽  
Atp7b Gene ◽  
Diagnosis And Management ◽  
Excess Copper ◽  
Copper Storage

Wilson disease is an autosomal recessive, copper storage disease, caused by a mutation in the ATP7B gene. Due to mutation in ATP7B is decreased secretion of ceruloplasmin into blood and decrease in excretion of copper into bile. Excess copper accumulate to toxic levels,mainly in the liver and secondarily in other organs. Children clinically become symptomatic after the age of 5 years. Clinical features ranges from asymptomatic raised transaminases to variable degree of liver disease, neurological symptoms and according involvement of other oragns. Diagnosis of Wilson disease is challenging. Modified Leip-zig score is useful for diagnosis. Treatment can be done with zinc and other chelators. KYAMC Journal Vol. 11, No.-4, January 2021, Page 212-217

Computer simulation of bovine copper metabolism

1993 ◽  
Vol 121 (1) ◽  
pp. 91-96 ◽  
Author(s):  
C. Blincoe
Keyword(s):  
Computer Simulation ◽  
World Wide ◽  
Copper Deficiency ◽  
Copper Metabolism ◽  
Normal Diet ◽  
Published Data ◽  
Dietary Copper ◽  
Copper Loss ◽  
Excess Copper ◽  
Dietary Deficiency

SUMMARYCopper deficiency in cattle is a world-wide problem. A deterministic digital computer simulation of copper metabolism was applied to cattle and especially to their response to dietary copper. This simulation was verified by comparison with published data on copper metabolism of cattle. Copper loss under conditions of dietary deficiency was governed largely by the rate of hepatic loss of copper. Copper stores were replenished gradually when the animal was returned to a normal diet. The increased copper consumption associated with increased total digestible nutrients (TDN) during lactation compensated for loss of copper in milk. Cattle have a very efficient mechanism for extrahepatic copper homeostasis by storage of excess copper in the liver, which can then be withdrawn in future deficiencies.

scholarly journals Laser Ablation Inductively Coupled Plasma Spectrometry: Metal Imaging in Experimental and Clinical Wilson Disease

Inorganics ◽  
2019 ◽  
Vol 7 (4) ◽  
pp. 54 ◽  
Author(s):  
Sabine Weiskirchen ◽  
Philipp Kim ◽  
Ralf Weiskirchen
Keyword(s):  
Laser Ablation ◽  
Wilson Disease ◽  
Inductively Coupled Plasma ◽  
Accurate Determination ◽  
Copper Metabolism ◽  
Atp7b Gene ◽  
Plasma Spectrometry ◽  
Inductively Coupled ◽  
Hepatic Copper ◽  
Inductively Coupled Plasma Spectrometry

Wilson disease is an inherited disorder caused by mutations in the ATP7B gene resulting in copper metabolism disturbances. As a consequence, copper accumulates in different organs with most common presentation in liver and brain. Chelating agents that nonspecifically chelate copper, and promote its urinary excretion, or zinc salts interfering with the absorption of copper from the gastrointestinal tract, are current medications. Also gene therapy, restoring ATP7B gene function or trials with bis-choline tetrathiomolybdate (WTX101) removing excess copper from intracellular hepatic copper stores and increasing biliary copper excretion, is promising in reducing body’s copper content. Therapy efficacy is mostly evaluated by testing for evidence of liver disease and neurological symptoms, hepatic synthetic functions, indices of copper metabolisms, urinary copper excretions, or direct copper measurements. However, several studies conducted in patients or Wilson disease models have shown that not only the absolute concentration of copper, but also its spatial distribution within the diseased tissue is relevant for disease severity and outcome. Here we discuss laser ablation inductively coupled plasma spectrometry imaging as a novel method for accurate determination of trace element concentrations with high diagnostic sensitivity, spatial resolution, specificity, and quantification ability in experimental and clinical Wilson disease specimens.

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