scholarly journals Anaesthesia for a patient with Wilson's Disease: A case report

2014 ◽  
Vol 2 (1) ◽  
pp. 31-32 ◽  
Author(s):  
SK Maharjan
Keyword(s):  
Wilson’S Disease ◽  
Autosomal Recessive Disorder ◽  
Wilson's Disease ◽  
Self Control ◽  
Copper Transporter ◽  
Medical College ◽  
Transporter Protein ◽  
Anaesthetic Agents ◽  
Body Tissues ◽  
Neurological Effect

Wilson’s disease (WD), also known as hepatolenticular degeneration, is an autosomal recessive disorder and is due toreduction in the synthesis of copper transporter protein, Ceruloplasmin. Due to ceruloplasmin defi ciency, there is failureof excretion of copper in bile and it accumulates in body tissues leading to major hepatic and neurological involvement.Hepatic involvement after excess copper deposition leads to chronic liver disease and cirrhosis, which may altermetabolism and excretion of anaesthetic agents. The neurological effect is a movement disorder, with abnormalitiesof speech, tremor, incontinence (lack of self control) and dystonia being common features. In spite of many knownanaesthetic problems, there are very few reports of General Anaesthesia and Regional Anaesthesia in these patients, sowe report a case of Wilson`s Disease with anaesthetic management.DOI: http://dx.doi.org/10.3126/jkmc.v2i1.10552Journal of Kathmandu Medical College, Vol. 2, No. 1, Issue 3, Jan.-Mar., 2013, page: 31-32

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 AYURVEDIC PROTOCOL FOR THE MANAGEMENT OF WILSON’S DISEASE – A CASE REPORT

2021 ◽  
Vol 9 (7) ◽  
pp. 1593-1596
Author(s):  
Priya Pantel ◽  
Swati Nagpal
Keyword(s):  
Wilson Disease ◽  
Wilson’S Disease ◽  
Lamp Assay ◽  
Autosomal Recessive Disorder ◽  
Wilson's Disease ◽  
Copper Transporter ◽  
Therapeutic Modalities ◽  
Normal Limits ◽  
Clinical Observations

Wilson’s disease (hepatolenticular degeneration) is a rare important autosomal recessive disorder caused by dys- function of the copper transporter ATP7B, which leads to snagging in copper transport by the hepatic lysosomes resulted in the deposition of copper in the brain, liver, kidney, or skeletal system. The symptoms are jaundice, Kayser-Fleischer rings, dysarthria, ataxia, and muscle spasticity etc. Current therapeutic modalities for the manage- ment of Wilson's disease include zinc, trientine, penicillamine etc. In Ayurvedic classics there is no exact correlation is available for this disease entity that exactly matches the feature of Wilson disease, but it can be correlated with Vatavyadhi under the Sahaja Vyadhi (Heredity) or Janamjata Vyadhi (congenital). The treatment1 mentioned for Vatavyadhi is Snehana (oleation), Mrudu Swedana (mild sedation), Anuvasana Basti (oil enema) and Niruha Basti (Decoction Enema). Material and methods: An 18-year-old male patient with Wilson disease complained of short stepping gait, persistent constipation, tremors, changed speech, generalised stiffness, and frequent eye blinking. S. Ceruloplasmin was found to be 18.33 mg/dL (usually 20 mg/dl to 40 mg/dl), S. copper was found to be within normal limits, and a slit lamp assay for the KF ring was negative. Ayurvedic therapy was used in conjunction with oral medicine throughout the treatment. Results: Clinical observations revealed that the patient's earlier symptoms had significantly improved, and he was able to carry out his usual activities with ease. Duration of treatment:three months. Conclusion: From the case study it can be concluded that the Ayurvedic medications and Panchkarma therapy in such patients may help in providing supportive care and improving the quality of life. Keywords: Vatavyadhi, Shaman Chikitsa, Bastikarma, Wilson's disease.

scholarly journals Prevalent Pathogenic Variants of ATP7B in Chinese Patients with Wilson’s Disease: Geographical Distribution and Founder Effect

Genes ◽  
2021 ◽  
Vol 12 (3) ◽  
pp. 336
Author(s):  
Guo-Min Yang ◽  
Rou-Min Wang ◽  
Nan Xia ◽  
Zi-Wei Zheng ◽  
Yi Dong ◽  
...  
Keyword(s):  
Geographical Distribution ◽  
Founder Effect ◽  
Wilson’S Disease ◽  
Autosomal Recessive Disorder ◽  
Wilson's Disease ◽  
Chinese Patients ◽  
Mainland Chinese ◽  
Pathogenic Variants ◽  
Specific Distribution ◽  
The Common

Wilson’s disease (WD) is an autosomal recessive disorder caused by ATP7B pathogenic variants. This study aimed to show the geographical distribution and haplotype spectrum of three prevalent pathogenic variants (p.R778L, p.P992L, p.T935M) in mainland Chinese population and clarify whether the founder effect may account for their origins. We firstly summarized the frequency and geographical distribution of p.R778L, p.P992L and p.T935M in 715 WD patients. Then, to construct haplotypes associated with the three variants, Sanger sequencing and microsatellite typing at three dinucleotide-repeat markers (D13S314, D13S301, D13S316) flanking the ATP7B gene were performed in 102 WD families. An obvious regional-specific distribution feature was found in p.T935M. Linkage disequilibrium at the three markers was shown in all the three variants and we found the common haplotypes specific for p.R778L, p.P992L and p.T935M respectively, represented successively by 10-7-7, 10-9-5 and 12-4-8, which all exhibited great significance vs. the control chromosomes (p < 0.01). Meanwhile, haplotypes for the three variants differed from the studies in other regions to some extent. The common haplotypes we found indicate that three prevalent pathogenic variants emerge due to the founder effect. Furthermore, the study contributes to expand our knowledge of the genetic diversity of WD from a cross-regional perspective.

Wilson's Disease: Liver Cirrhosis and Virus-like Particles

1968 ◽  
Vol 26 ◽  
pp. 18-19
Author(s):  
M. A. Hairstone ◽  
A. Modjtabai ◽  
J. Azerbeygui ◽  
T. Shamsa
Keyword(s):  
Electron Microscopy ◽  
Liver Cirrhosis ◽  
Wilson’S Disease ◽  
Light And Electron Microscopy ◽  
Copper Metabolism ◽  
Wilson's Disease ◽  
Hepatolenticular Degeneration ◽  
Thin Sections ◽  
Body Tissues ◽  
Lenticular Nucleus

Hepatolenticular degeneration (Wilson's disease) manifests itself in many ways the most obvious of which is a disorder of copper metabolism. Normally copper beyond a certain threshhold is transferred to ceruplasmin which may circulate in the plasma. In patients with Wilson's disease this transfer apparently does not take place. There follows an accumulation of the metal in body tissues most notably the lenticular nucleus and the liver.Needle biopsies taken of the liver of an 11 year old male with Wilson's disease was prepared for light and electron microscopy by conventional methods. Thin sections were examined with Elmiskop 1A.Histologically the liver alteration was that of cirrhosis in which the cells showed fatty and glycogenic degeneration, cytoplasmic coagulation, fibrosis, and pigment deposition. Electron microscopy confirmed and extended light microscopy.

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 Therapeutic Response of Wilson’s disease to D-Penicillamine in Paediatric Population: A one year follow-up study

1970 ◽  
Vol 18 (1) ◽  
pp. 37-43
Author(s):  
NC Saha ◽  
A Sultana ◽  
MAH Mollah ◽  
T Begum ◽  
AKMM Rahman ◽  
...  
Keyword(s):  
Wilson’S Disease ◽  
Paediatric Population ◽  
Wilson's Disease ◽  
Response To Treatment ◽  
College Hospital ◽  
Medical College ◽  
Urinary Copper ◽  
F Ring ◽  
One Year

Objectives: The objective of this study was to observe the outcome of patients treated with penicillamine. Design: Intervention type of study Setting: Department of Paediatrics, Dhaka Medical College Hospital Study period: January 2007 to December 2008. Study subjects: Sixteen diagnosed cases of Wilson's disease as per inclusion criteria. Intervention: D-penicillamine was started in a low dose, which was titrated gradually. The clinical and biochemical parameters were evaluated to look for the response to treatment. Results: A total of 16 cases were included. Among them 12 were male and 4 were female. The mean (± SD) of age of the patients was 10 (± 2.34) years. Consanguinity between parents was present in 44% (n=7). The hepatic and neurological variety of WD were 56 % (n=9) and 44% (n=7) respectively. The K-F ring was present in 75% (n=12/16) of WD cases. The excretion of 24 hrs urinary copper was steadily increased from discharge till second follow-up in response with increasing dose of penicillamine, thereafter the value was declining gradually till final follow-up at 1 year. Regarding outcome, 7 patients improved of which 4 were in hepatic and 3 in neurological group, 3 of hepatic WD expired and 2 developed neurological manifestations. One patients developed proteinuria while penicillamine treatment .About half of patients with WD were improved. Adequate cupriuresis occurred at three months. All the symptoms and biochemical markers WD improved gradually. No significant side effect was seen. Key words: Wilson's disease; penicillamine; urinary copper. DOI: 10.3329/jdmc.v18i1.6304 J Dhaka Med Coll. 2009; 18(1) : 37-43

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 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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