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.

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 A Novel Mutation of ATP7B Gene in a Case of Wilson Disease

Medicina ◽  
2021 ◽  
Vol 57 (2) ◽  
pp. 123
Author(s):  
Cigdem Yuce Kahraman ◽  
Ali Islek ◽  
Abdulgani Tatar ◽  
Özlem Özdemir ◽  
Adil Mardinglu ◽  
...  
Keyword(s):  
Wilson Disease ◽  
Novel Mutation ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis ◽  
Compound Heterozygous ◽  
Atp7b Gene ◽  
Loss Of Function ◽  
Clinical Presentations ◽  
The Family ◽  
The Brain

Wilson disease (WD) (OMIM# 277900) is an autosomal recessive inherited disorder characterized by excess copper (Cu) storage in different human tissues, such as the brain, liver, and the corneas of the eyes. It is a rare disorder that occurs in approximately 1 in 30,000 individuals. The clinical presentations of WD are highly varied, primarily consisting of hepatic and neurological conditions. WD is caused by homozygous or compound heterozygous mutations in the ATP7B gene. The diagnosis of the disease is complicated because of its heterogeneous phenotypes. The molecular genetic analysis encourages early diagnosis, treatment, and the opportunity to screen individuals at risk in the family. In this paper, we reported a case with a novel, hotspot-located mutation in WD. We have suggested that this mutation in the ATP7B gene might contribute to liver findings, progressing to liver failure with a loss of function effect. Besides this, if patients have liver symptoms in childhood and/or are children of consanguineous parents, WD should be considered during the evaluation of the patients.

scholarly journals Co-occuring Toxoplasma Infection and Psychotic Symptoms : Case Report

2020 ◽  
Vol 1 (1) ◽  
Author(s):  
Carla R Marchira ◽  
Andrian F Kusumadewi ◽  
Patricia Wulandari
Keyword(s):  
Life Support ◽  
The United States ◽  
The Body ◽  
Psychotic Symptoms ◽  
Toxoplasma Infection ◽  
Case Presentation ◽  
The Family ◽  
Brain Neurotransmitter ◽  
The Brain

Abstract   Introduction Schizophrenia is a neuropsychiatric disease that is global and is experienced by 1% of the population in the United States and Europe. This study raises awareness of the role of infectious agents in the initiation of psychotic symptoms in schizophrenia. Case Presentation A 20-year-old man is taken by the family to the emergency department because he has decreased consciousness, and the body suddenly stiffens. Patients begin to experience changes in behavior in the form of difficulty sleeping, when invited to talk quietly, laughing alone and whispering without the other person. TORCH examination found an increase in anti-toxoplasma IgM and IgG. This patient is then given basic life support in the form of ABC (airway, breathing, circulation support) and seizure management. Also given risperidone 2 mg / 12 hours, pyrimethamine 1-II (1x200 mg), pyrimethamine day III-XXI (1x 25 mg), intravenous Cefotaxim 2g / 8 hours, Clindamycin 500 mg / 8 hours. The patient experienced improvement after the second week of treatment. Conclusion Toxoplasmosis causes lesions in the brain that cause changes in brain neurotransmitter pathways, which lead to changes in patient behavior.

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 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

scholarly journals Wilson’s Disease: An Uncommon Presentation

1970 ◽  
Vol 13 (1) ◽  
pp. 103-105
Author(s):  
Md Billal Alam ◽  
Shormistha Biswas ◽  
Mostakim Biswas ◽  
Ashrafur Rahman ◽  
Hafizur Rahman ◽  
...  
Keyword(s):  
Inborn Error ◽  
Autosomal Recessive ◽  
The Body ◽  
Recessive Trait ◽  
Autosomal Recessive Trait ◽  
Hepatolenticular Degeneration ◽  
Hepatic Involvement ◽  
Uncommon Presentation ◽  
Neuropsychiatric Manifestations ◽  
Cirrhosis Of Liver

Wilson’s disease (WD), also known as hepatolenticular degeneration, is an inborn error of metabolism inherited as an autosomal recessive trait, characterized by toxic accumulation of copper in the body, particularly liver, brain and eyes. In children,WD presents more often with hepatic manifestations like acute hepatitis,cirrhosis of liver or liver failure.We present an unusual presentation of WD in a 15 years old male child who presented with neuropsychiatric manifestations without hepatic involvement. DOI: http://dx.doi.org/10.3329/jom.v13i1.10086 JOM 2012; 13(1): 103-105

scholarly journals If Motivation Was a Key Factor in Aerobic Performance in Tropical Climate?

2021 ◽  
Vol 11 ◽  
Author(s):  
Guillaume R. Coudevylle ◽  
Stéphane Sinnapah ◽  
Aurélie Collado ◽  
Fabien Fenouillet ◽  
Olivier Hue ◽  
...  
Keyword(s):  
Theoretical Model ◽  
Tropical Climate ◽  
Motivational Factors ◽  
The Body ◽  
Aerobic Performance ◽  
Physiological Constraints ◽  
Key Factor ◽  
Performance Decline ◽  
The Impact ◽  
The Brain

This mini review examines the impact of tropical climate (TC) on motivational factors during aerobic performance and proposes the tracks of an integrative theoretical model to better understand the direct and indirect motivational mechanisms that can operate on athletic performances. TC is detrimental for aerobic performance and, although it clearly induces physiological constraints, these do not seem to be the only factors that explain the performance decline. Indeed, TC performance researchers have developed a theory of anticipation, which suggests that the brain commands a reduction in effort to protect the body from probable harm and heatstroke risk. The objective of this mini review is thus to examine the possibility that motivation may be a key factor in TC performance. The main psychological impacts of TC on aerobic performance are reviewed and an integrative theoretical model is presented that may help to better understand the mechanisms of motivation.

scholarly journals Catatonic Disorder due to Wilson’s disease - A rare presentation

2015 ◽  
pp. 17-20
Author(s):  
Tanushree Bhattacharya ◽  
Asish Debnath ◽  
Sharmila Sarkar
Keyword(s):  
Wilson Disease ◽  
Autosomal Recessive ◽  
Wilson’S Disease ◽  
Autosomal Recessive Disorder ◽  
Wilson's Disease ◽  
The Body ◽  
Rare Presentation ◽  
Neurological Features ◽  
Copper Chelators ◽  
Psychiatric Manifestations

Wilson disease (WD) is a relatively rare autosomal recessive disorder caused by the mutation of ATP7B gene, resulting in impaired transportation of copper in the body which is then deposited in various organs such as liver, brain and kidney. Catatonia at first presentation in WD has rarely been reported. Here we report a case of a 14 year old boy who presented with catatonia among other neuropsychiatric features and who was later diagnosed with Wilson's disease. He responded well to treatment with Copper chelators, olanzapine and lorazepam. Though uncommon, a diagnosis of Wilson's disease should be considered in the evaluation of adolescents and young adults presenting with psychiatric manifestations &/or neurological features.

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