scholarly journals Kayser-Fleischer Ring evaluation in Wilson's Disease in a tertiary eye care centre of Nepal

2015 ◽  
Vol 4 (3) ◽  
pp. 17-20
Author(s):  
A K Sharma ◽  
S Sitaula ◽  
M Thapa ◽  
G S Shrestha ◽  
B P Gajurel ◽  
...  
Keyword(s):  
Wilson’S Disease ◽  
Neuropsychiatric Symptoms ◽  
Positive Family History ◽  
Measurement Data ◽  
Copper Metabolism ◽  
Cost Effective ◽  
Wilson's Disease ◽  
Medical College ◽  
The Status ◽  
F Ring

Wilson’s disease is a hereditary disorder of copper metabolism which is characterized by neuropsychiatric and hepatic manifestations as well as appearance of Kayser-Fleischer ring. This is a retrospective review of the records of the patients of Wilson’s disease who attended Neuro-ophthalmic clinic for the identification of Kayser-Fleischer (K-F) ring from January2010 to June 2012. Detailed eye examination included visual acuity assessment, slit lamp biomicroscopy and intra-ocular pressure measurement. Data regarding clinical features, laboratory investigations and the status of K-F ring was recorded. Seven cases of Wilson’s disease with age range of 9-15 years were included in the study. Among them four (57.1%) had neuropsychiatric symptoms, two (28.5%) had hepatic disease and one (14.3%) was asymptomatic, diagnosed by positive family history and laboratory tests. Among four subjects having K-F ring, three (75%) subjects had neuropsychiatric symptoms and one subject had hepato-billiary disease. Besides K-F rings, other ophthalmic findings were sunflower cataract (14.3%) and vernal keratoconjuctivitis (14.3%). The identification of K-F ring is a simple and cost effective screening test for the diagnosis of Wilson’s disease. K-F is present in majority of the patients with neurological manifestations. DOI: http://dx.doi.org/10.3126/jcmc.v4i3.11934Journal of Chitwan Medical College 2014; 4(3): 17-20 

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 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 Hypopituitarism in Wilson’s disease resolved after copper-chelating therapy

2021 ◽  
Vol 2021 ◽  
Author(s):  
Nina Dauth ◽  
Victoria T Mücke ◽  
Marcus M Mücke ◽  
Christian M Lange ◽  
Martin Welker ◽  
...  
Keyword(s):  
Wilson’S Disease ◽  
Neuropsychiatric Symptoms ◽  
Molecular Genetic ◽  
Copper Metabolism ◽  
Wilson's Disease ◽  
Pituitary Function ◽  
List Type ◽  
Copper Chelation ◽  
Gonadal Dysfunction ◽  
Chelating Therapy

Summary Wilson’s disease (WD) is a rare disorder of copper metabolism usually presenting with variable liver damage and neuropsychiatric symptoms. Here we report a 39-year-old Taiwanese female with late manifestation of WD presenting with gonadotroph, thyreotroph and corticotroph hypopituitarism. Molecular genetic testing revealed compound heterozygosity for two mutations in exons 12 and 14 (c.2828G>A and c.3140A>T). Copper-chelating therapy with D-penicillamine and zinc was initiated along with supplementation of hydrocortisone and L-thyroxine. Hypopituitarism resolved when urinary copper excretion returned to normal levels under copper chelation. This case should raise awareness of pituitary function in WD patients. Learning points Hypopituitarism can complicate Wilson’s disease (WD) and endocrinologists should be aware of it when caring for hypopituitary patients. Hepatologists should consider endocrinologic testing for hypopituitarism when WD patients present with symptoms of adrenal insufficiency, thyroid or gonadal dysfunction. Copper-chelating treatment is mandatory and may lead to the recovery of pituitary function in such patients.

scholarly journals Psychiatric manifestations in Wilson’s disease: possibilities and difficulties for treatment

2018 ◽  
Vol 8 (7) ◽  
pp. 199-211 ◽  
Author(s):  
Tomasz Litwin ◽  
Petr Dusek ◽  
Tomasz Szafrański ◽  
Karolina Dzieżyc ◽  
Anna Członkowska ◽  
...  
Keyword(s):  
Wilson’S Disease ◽  
Treatment Guidelines ◽  
Psychiatric Symptoms ◽  
Neuropsychiatric Symptoms ◽  
Cognitive Disorders ◽  
Copper Metabolism ◽  
Wilson's Disease ◽  
Inherited Metabolic Disorder ◽  
Improve Treatment ◽  
Psychiatric Manifestations

Wilson’s disease (WD) is an inherited metabolic disorder related to disturbances of copper metabolism, and predominantly presents with liver and neuropsychiatric symptoms. In most cases it can be successfully treated with anti-copper agents, and both liver function and neuropsychiatric symptoms typically improve. Treatment guidelines for WD include recommendations for anti-copper treatment as well as for the treatment of liver failure symptoms. Recently, recommendations for treatment of the neurological symptoms of WD have also been proposed. Although most WD patients present with psychiatric symptoms at some stage of the disease, currently there are no guidelines for the treatment of the psychiatric manifestations. Treatment of the psychiatric symptoms of WD is often guided by general psychiatric experience, which typically glosses over the specificity of WD, and can result in severe neurological and/or hepatic complications. Here we review and discuss the possible treatments available for the mood disturbances, psychosis, behavioral and cognitive disorders that can occur in WD, as well as their efficacy.

The Need for Consensus About Liver Transplantation For Patients With Neuropsychiatric Wilson’s Disease

2021 ◽  
pp. 152692482110028
Author(s):  
Alberto Ferrarese ◽  
Patrizia Burra
Keyword(s):  
Liver Transplantation ◽  
Patient Outcomes ◽  
Wilson’S Disease ◽  
Therapeutic Option ◽  
Copper Metabolism ◽  
Wilson's Disease ◽  
Published Data ◽  
Neurological Improvement ◽  
Effective Therapeutic Option

Liver transplantation is considered an effective therapeutic option for Wilson’s disease (WD) patients with hepatic phenotype, since it removes the inherited defects of copper metabolism, and is associated with excellent graft and patient outcomes. The role of liver transplantation in WD patients with mixed hepatic and neuropsychiatric phenotype has remained controversial over time, mainly because of high post-operative complications, reduced survival and a variable, unpredictable rate of neurological improvement. This article critically discusses the recently published data in this field, focussing in more detail on isolated neuropsychiatric phenotype as a potential indication for liver transplantation in WD patients.

scholarly journals Small fiber dysfunction in patients with Wilson's disease

2014 ◽  
Vol 72 (8) ◽  
pp. 592-595 ◽  
Author(s):  
Francisco de Assis A. Gondim ◽  
Davi F. Araújo ◽  
Ítalo S. Oliveira ◽  
Otoni Cardoso do Vale
Keyword(s):  
Autonomic Dysfunction ◽  
Wilson’S Disease ◽  
Neuropsychiatric Symptoms ◽  
Wilson's Disease ◽  
Small Fiber Neuropathy ◽  
Disease Course ◽  
Neuromuscular Dysfunction ◽  
Small Fiber ◽  
Skin Wrinkling

Objective: Patients with Wilson’s disease (WD) may develop a wide variety of neuropsychiatric symptoms, but there are few reports of autonomic dysfunction. Here, we described evidence of small fiber and/or autonomic dysfunction in 4 patients with WD and levodopa-responsive parkinsonism. Method: We reviewed the charts of 4 patients with WD who underwent evaluation for the presence of neuromuscular dysfunction and water-induced skin wrinkling test (SWT). Results: Two men and 2 women (33±3.5 years) with WD were evaluated. They all had parkinsonism at some point during their disease course. Parkinsonism on patient 4 almost completely subsided with treatment of WD. Two patients had significant sensory and 2 significant autonomic complaints, including syncopal spells. NCS/EMG was normal in all but SWT was abnormal in half of them (mean 4-digit wrinkling of 0.25 and 1). Discussion: A subset of patients with WD exhibit evidence of abnormal skin wrinkling test (small fiber neuropathy).

The ontogeny of liver copper metabolism in the guinea pig: Clues to the etiology of Wilson's disease

Hepatology ◽  
1986 ◽  
Vol 6 (3) ◽  
pp. 427-432 ◽  
Author(s):  
Surjit K. S. Srai ◽  
Andrew K. Burroughs ◽  
Bernard Wood ◽  
Owen Epstein
Keyword(s):  
Guinea Pig ◽  
Wilson’S Disease ◽  
Copper Metabolism ◽  
Wilson's Disease ◽  
Liver Copper
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