scholarly journals Wilson’s Disease: Diagnosis of Wilson’s Disease in Ethiopian Young Sisters

2020 ◽  
Vol 2020 ◽  
pp. 1-6
Author(s):  
Nebiyu Bekele ◽  
Frew Ewnetu ◽  
Tigest Hailu ◽  
Zerubabel Tegegne ◽  
Abilo Tadesse
Keyword(s):  
Wilson’S Disease ◽  
Clinical Signs ◽  
Copper Metabolism ◽  
Autosomal Recessive Disorder ◽  
Menkes Disease ◽  
Disease Diagnosis ◽  
Wilson's Disease ◽  
Northwest Ethiopia ◽  
Serum Ceruloplasmin ◽  
Ceruloplasmin Level

Background. Wilson’s disease is an inherited autosomal recessive disorder of copper metabolism. Clinical signs, biochemical parameters, histologic findings, and/or ATP7B genetic testing are required to diagnose Wilson’s disease. Case Presentation. 25-year-old and 22-year-old young women (siblings) presented to the University of Gondar Hospital, Northwest Ethiopia, with difficulty of keeping balance of 3-year duration and progressive extremity weakness of 5-year duration, respectively. Both siblings had visible ocular Kayser–Fleischer rings, low serum ceruloplasmin level and increased urinary copper content, ultrasound-evidenced cirrhotic liver disease, and axial T2-weighted MRI hyperintensities in basal ganglia, thalamus, and brainstem (midbrain and pons). Diagnosis of Wilson’s disease was established in both patients using a diagnostic scoring system proposed by “8th International Meeting on Wilson Disease and Menkes Disease, Leipzig (2001).” Treatment with D-penicillamine as a chelator and zinc sulphate as a metalothionein-inductor was started. Screening of their family members was recommended. Conclusion. Wilson’s disease, declared to be an orphan disease, requires clinical acumen of physicians and expensive investigation modalities for prompt recognition and is inaccessible as required, lifelong drugs for treatment.

scholarly journals Rickets Due to Distal Renal Tubular Acidosis– an Uncommon Presentation of Wilson’s Disease

2018 ◽  
Vol 29 (2) ◽  
pp. 84-86
Author(s):  
Md Abul Kalam Azad ◽  
Afroja Alam ◽  
Shaheen Lipika Quayum ◽  
AFM Azim Anwar ◽  
Monjila Anjum
Keyword(s):  
Renal Tubular Acidosis ◽  
Wilson’S Disease ◽  
Bone Mineralization ◽  
Copper Metabolism ◽  
Autosomal Recessive Disorder ◽  
Disease Diagnosis ◽  
Wilson's Disease ◽  
Uncommon Presentation ◽  
Significant Clinical Improvement ◽  
Renal Tubular

Rickets is a disease of bone mineralization of growth plate. Refractory rickets can be caused by distal (type 1) renal tubular acidosis (RTA). A number of conditions can result in distal RTA and Wilson’s disease is an uncommon entity. Wilson’s disease is a rare autosomal recessive disorder of copper metabolism with diverse presentations. We describe a case of refractory rickets due to distal RTA, caused by Wilson’s disease. Diagnosis of Wilson’s disease was confirmed with presence of Kayser–Fleischer (K–F) rings and high urinary copper. Further investigations revealed urinary acidification defect with hypercalciuria pointing towards distal RTA. He was treated with penicillamine & oral Zinc and significant clinical improvement was observed.Bangladesh J Medicine Jul 2018; 29(2) : 84-86

scholarly journals Wilson’s Disease in Children : An Update

2020 ◽  
Vol 2 (Number 1) ◽  
pp. 27-30
Author(s):  
Sadika Kadir ◽  
Tamanna Begum ◽  
Mohammed Ashraful Haque ◽  
Nirupama Najim ◽  
Shayma Chakravarty ◽  
...  
Keyword(s):  
Liver Failure ◽  
Acute Liver Failure ◽  
Wilson’S Disease ◽  
Psychiatric Symptoms ◽  
Copper Metabolism ◽  
Autosomal Recessive Disorder ◽  
Wilson's Disease ◽  
Atp7b Gene ◽  
Biochemical Tests ◽  
Serum Ceruloplasmin

Wilson’s Disease is an autosomal recessive disorder of copper metabolism due to ATP7B gene defect. This defect result in progressive toxic accumulation of copper in liver, CNS, cornea, skeletal system and other organs. Clinical presentations of Wilson’s disease (WD) in childhood ranges from asymptomatic liver disease to cirrhosis or acute liver failure, whereas neurological and psychiatric symptoms are rare. The basic diagnostic approach includes serum ceruloplasmin and 24-hour urinary copper excretion. Final diagnosis of WD can be established using a diagnostic scoring system based on symptoms, biochemical tests assessing copper metabolism, and molecular analysis of mutations in the ATP7B gene. Pharmacological treatment is life-long and aims at removal of copper excess by chelating agents as D-penicillamine, trientine or inhibition of intestinal copper absorption with zinc salts. Acute liver failure often requires liver transplantation. Genetic therapy and haplocyte transplantation represent future curative treatment for Wilson’s disease.

Diagnostic Dilemmas of Wilson's Disease: Diagnosis and Treatment

PEDIATRICS ◽  
1978 ◽  
Vol 62 (1) ◽  
pp. 47-51
Author(s):  
Steven L. Werlin ◽  
Richard J. Grand ◽  
Jay A. Perman ◽  
John B. Watkins
Keyword(s):  
Autosomal Recessive ◽  
Wilson’S Disease ◽  
Copper Metabolism ◽  
Autosomal Recessive Disorder ◽  
Disease Diagnosis ◽  
Wilson's Disease ◽  
Diagnosis And Treatment ◽  
Neurologic Dysfunction ◽  
Classical Triad ◽  
High Index Of Suspicion

Wilson's disease, an autosomal recessive disorder of copper metabolism, may defy diagnosis in children The classical triad of Kayser-Fleischer rings, neurologic dysfunction, and hypoceruloplasminemia may be absent. Patients may be seen initially with acute or chronic hepatitis, hemolytic anemia, or neurologic dysfunction. Guidelines are presented for diagnosis of Wilson's disease based on a review of 25 pediatric and adolescent patients. A high index of suspicion is necessary so that therapy with penicillamine may be begun before irreversible liver or neurologic damage occurs. The prognosis is excellent when diagnosis and treatment are established early.

IV. Wilson’s disease and Menkes disease

1999 ◽  
Vol 276 (2) ◽  
pp. G311-G314 ◽  
Author(s):  
Mark Schaefer ◽  
Jonathan D. Gitlin
Keyword(s):  
Wilson’S Disease ◽  
Clinical Presentation ◽  
Genetic Disorders ◽  
Copper Metabolism ◽  
Menkes Disease ◽  
Wilson's Disease ◽  
Inherited Disorders ◽  
Specific Expression ◽  
Cellular Copper ◽  
Golgi Network

Copper is an essential transition metal that permits the facile transfer of electrons in a series of critical biochemical pathways. Menkes disease and Wilson’s disease are inherited disorders of copper metabolism resulting from the absence or dysfunction of homologous copper-transporting ATPases that reside in the trans-Golgi network of all cells. Despite striking differences in the clinical presentation of these two diseases, the respective ATPases function in precisely the same manner within the cell and the unique clinical features of each disease are entirely the result of the tissue-specific expression of each protein. Elucidation of the basic defect in these rare genetic disorders has provided a valuable heuristic paradigm for understanding the mechanisms of cellular copper homeostasis.

PENICILLAMINE-INDUCED NORMALIZATION OF CLINICAL SIGNS, AND LIVER MORPHOLOGY AND HISTOCHEMISTRY IN A CASE OF WILSON'S DISEASE

PEDIATRICS ◽  
1970 ◽  
Vol 45 (2) ◽  
pp. 260-268
Author(s):  
Sture Falkmer ◽  
GÖsta Samuelson ◽  
Stig SjÖlin
Keyword(s):  
Liver Cirrhosis ◽  
Healthy Subjects ◽  
Wilson’S Disease ◽  
Clinical Signs ◽  
Copper Metabolism ◽  
Wilson's Disease ◽  
Portal Cirrhosis ◽  
Liver Morphology ◽  
Penicillamine Therapy

After 27 months of daily penicillamine administration (250 mg 3 or 4 times daily) a portal cirrhosis in a 10-year-old girl was found to have healed clinically and histopathologically. This case shows that even an advanced portal liver cirrhosis in Wilson's disease can be healed by adequate penicillamine therapy. Hence, it is important that all patients with liver cirrhosis who are younger than 30 years of age are examined for any signs of Wilson's disease. Copper metabolism studies with Cu64-labeled copper citrate revealed characteristic differences between the homozygote patient and her heterozygote parents and healthy subjects.

scholarly journals CT hypodensity on cerebral white matter in Wilson's disease

1991 ◽  
Vol 49 (2) ◽  
pp. 211-214 ◽  
Author(s):  
Laura B. Jardim ◽  
Aníbal Carneiro ◽  
Suzana Hansel ◽  
Carlos R. M. Rieder ◽  
Roberto Giugliani
Keyword(s):  
White Matter ◽  
Ct Scan ◽  
Wilson’S Disease ◽  
Cerebellar Atrophy ◽  
Copper Metabolism ◽  
Autosomal Recessive Disorder ◽  
Wilson's Disease ◽  
Subcortical White Matter ◽  
Cortical Atrophy ◽  
Cerebral White Matter

Wilson's disease in an autosomal recessive disorder of copper metabolism where systemic manifestations are secondary to thei accumulation of copper in hepatic, nervous and other tissues. In CNS, the structural lesions most commonly found by CT scan are ventricular dilatation, cortical atrophy, basal ganglia hyperdensities, and brainstem and cerebellar atrophy. Degenerative changes of cerebral white matter seen on early anatomo-pathologic studies, but were almost never found on CT scan from recently described patients. We report a case of Wilson's disease with an unusually rapid deterioration where asymmetric low-densities in the subcortical white matter were disclosed by CT scan.

Wilson’s disease

Open Medicine ◽  
2010 ◽  
Vol 5 (2) ◽  
pp. 145-149
Author(s):  
Mehmet Hursitoglu ◽  
Mehmet Cikrikcioglu ◽  
Ahmet Danalioglu ◽  
Tufan Tukek
Keyword(s):  
Wilson’S Disease ◽  
Clinical Manifestations ◽  
Copper Metabolism ◽  
Autosomal Recessive Disorder ◽  
Wilson's Disease ◽  
Copper Accumulation ◽  
Genetic Studies ◽  
Initiation Of Therapy ◽  
The Brain ◽  
Underlying Pathophysiology

AbstractWilson’s disease is an autosomal-recessive disorder caused by mutation in the ATP7B gene. Absent or reduced function of ATP7B protein leads to decreased hepatocellular excretion of copper into bile. Subsequent copper accumulation, first in the liver but ultimately in the brain and other tissues, produces different clinical manifestations such as hepatic, neurological, hematological, ophthalmological, and psychiatric problems. Diagnosis is based on clinical suspicion, parameters of copper metabolism, ophthalmic examination (Kayser-Fleischer rings) and a liver biopsy. Genetic studies are of limited use. Early diagnosis and initiation of therapy with chelators and therapeutic plasma exchange therapy are essential for prognosis. Liver transplantation corrects the underlying pathophysiology and can be lifesaving in fulminant hepatic failure. Screening of siblings and 1st degree relatives of the patients is also important.

scholarly journals A service for patients with Wilson's disease

1988 ◽  
Vol 12 (10) ◽  
pp. 426-427
Author(s):  
T. R. Dening ◽  
G. E. Berrios ◽  
C. A. Seymour
Keyword(s):  
Systematic Study ◽  
Autosomal Recessive ◽  
Chelating Agents ◽  
Wilson’S Disease ◽  
Copper Metabolism ◽  
Autosomal Recessive Disorder ◽  
Wilson's Disease ◽  
The Uk

Wilson's disease (WD) is an autosomal recessive disorder of copper metabolism with an incidence of about 30 per million (i.e. fewer than 2,000 in the UK). Nevertheless, it is important for two main reasons: its manifestations are protean and may lead it to present to a range of specialists; and its otherwise lethal course can be halted by treatment with chelating agents such as penicillamine and trientine. Published cases and systematic study have shown that neuropsychiatric symptomatology is important in a high proportion. In fact, about one-fifth either present psychiatrically or are at least seen by a psychiatrist before WD is diagnosed.

scholarly journals Wilson's disease: A rare autosomal recessive disorder of copper metabolism

2014 ◽  
Vol 4 (2) ◽  
pp. 51-53
Author(s):  
RR Pradhan ◽  
J Gupta
Keyword(s):  
Autosomal Recessive ◽  
Wilson’S Disease ◽  
Clinical Manifestations ◽  
Copper Toxicity ◽  
Copper Metabolism ◽  
Autosomal Recessive Disorder ◽  
Wilson's Disease ◽  
Medical College ◽  
Ocular Manifestations ◽  
Membrane Bound

Wilson’s disease is an autosomal recessive disorder caused by mutations in the ATP7B gene, a membrane-bound copper-transporting ATPase. Clinical manifestations are caused by copper toxicity and primarily involve the liver, the brain and the eye. Because effective treatment is available, it is important to make this diagnosis early. We report a patient who developed features of neurological and ocular manifestations: incoordination and tremor and blurring of vision with presence of Kayser-Fleischer ring circling the cornea but no signs of hepatic dysfunction. DOI: http://dx.doi.org/10.3126/jcmc.v4i2.10866 Journal of Chitwan Medical College 2014; 4(2): 51-54

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.

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