scholarly journals FOUR DIFFERENT PRESENTATIONS OF WILSON’S DISEASE IN ONE FAMILY

2021 ◽  
Vol 71 (4) ◽  
pp. 1498-1500
Author(s):  
Asbah Rahman ◽  
Qudratullah Malik ◽  
Farooq Ikram
Keyword(s):  
Wilson’S Disease ◽  
Wilson's Disease ◽  
Serum Copper ◽  
Screening Tools ◽  
Hereditary Diseases ◽  
Military Hospital ◽  
Normal Limits ◽  
Paternal Uncle ◽  
Urinary Copper ◽  
Missed Diagnosis

Wilson’s disease (WD) is an important differential to consider in any child presenting with hepatic, neurological or ophthalmological manifestations of the disease. We report here 4 individuals of the same family: 2 paediatric and 2 adult patients with a spectrum of manifestations of the disease presenting to Pak Emirates Military Hospital and Combined Military Hospital Rawalpindi, Rawalpindi, from January 2019 and September 2020. The index case had neuro-wilson; the brother was diagnosed preemptively during screening; the father being completely asymptomatic despite markedly raised 24 hours urinary copper levels; and the paternal uncle being diagnosed after many years of manifesting hepatic symptoms. The purpose of this publication is to sensitize the readers to the usage of scoring tools such as the Leipzig score, the importance of regular follow-up and family screening of hereditary diseases. We would also like to highlight the possibility of missed diagnosis with serum Copper levels (S.Copper) which were within normal limits (WNL) in all 4 of our patients; and Serumceruloplasmin (S.ceruloplasmin) levels which were within normal limits in 3\4 of these patients, that are often used as screening tools for WD.

scholarly journals Wilson's disease: the importance of measuring serum caeruloplasmin non-immunologically

2003 ◽  
Vol 40 (2) ◽  
pp. 115-121 ◽  
Author(s):  
J. M. Walshe
Keyword(s):  
Wilson’S Disease ◽  
Liver Function Tests ◽  
Wilson's Disease ◽  
Serum Copper ◽  
Full Blood Count ◽  
Total Serum ◽  
Clotting Factors ◽  
Urinary Copper ◽  
Specialist Centre ◽  
Close Relatives

Wilson's disease should be considered as a possible diagnosis in any child, adolescent or young adult with liver damage without other explanation, especially when haemolysis is present. However, it may also present in adolescents or young adults with neurological signs confined to the motor system. The first diagnostic screening test is the estimation of the serum caeruloplasmin and total serum copper concentrations, with calculation of the serum non-caeruloplasmin-bound ('free') copper. Serum caeruloplasmin, which contains copper, is best determined by measurement of its oxidase activity, as the immunonephelometric method measures both caeruloplasmin and the biologically inactive apo-form. Diagnosis may be confirmed by an elevated urinary copper excretion. All close relatives of an identified patient must be screened and, where doubt persists, investigation of the Wilson's gene at chromosome 13q14.3 can be employed. Lifelong follow-up studies are best conducted in a specialist centre. Compliance with chelating therapy (penicillamine or trientine) or administration of the metal antagonist tetrathiomolybdate or zinc is monitored by determination of the serum 'free' copper, which should be maintained at or near 1·6 µmol/L (10 µg/100 mL). Side-effects of therapy are detected by the estimation of urinary total protein, full blood count and erythrocyte sedimentation rate, clotting factors and liver function tests.

scholarly journals Wilson’s Disease Presenting in Late Adult Life

2021 ◽  
pp. 142-146
Author(s):  
Wafa AlDhaleei ◽  
Maryam AlAhmad ◽  
Ibrahim Alhosani
Keyword(s):  
Wilson’S Disease ◽  
Adult Life ◽  
Copper Metabolism ◽  
Wilson's Disease ◽  
Serum Copper ◽  
Hepatic Copper ◽  
Urinary Copper ◽  
Clinical Presentations ◽  
Function Impairment ◽  
Diagnostic Management

Wilson’s disease (WD) is an autosomal recessive disease affecting the copper metabolism resulting in various clinical presentations. Diagnosis includes the presence of low serum copper and ceruloplasmin concentrations, increased urinary copper excretion, and/or increased hepatic copper concentrations. Yet, genetic testing remains diagnostic. Management includes copper chelating agents and liver transplant in advance cases. We report a case of WD presenting with liver function impairment in late adult life and started on treatment. Therefore, early diagnosis and treatment of WD can prevent related complications.

scholarly journals GENETIC DIAGNOSTICS AND CLINICAL FEATURES OF WILSON’S DISEASE IN CHILDREN

2020 ◽  
Vol 2 ◽  
pp. 3-9
Author(s):  
Ivanna Haiboniuk ◽  
Marta Dats-Opoka ◽  
Halyna Makukh ◽  
Yaryna Boyko ◽  
Igor Kiselyk
Keyword(s):  
Nervous System ◽  
Genetic Analysis ◽  
Wilson’S Disease ◽  
Clinical Manifestations ◽  
Wilson's Disease ◽  
Hereditary Diseases ◽  
Genetic Diagnostics ◽  
Atp7b Gene ◽  
Hepatobiliary System ◽  
Child Age

A disorder of copper metabolism at Wilson’s disease (WD), conditioned by a mutation of adenosine thriphospate P-type gene (ATP7B), results in irreversible changes in the liver and in the nervous system. Mortality is high at WD, but it is one of hereditary diseases, well subjected to the therapy. The disease is manifested in the early age, but its clinical course in children is symptomless that essentially complicates diagnostics. A single reliable method is genetic analysis for revealing mutations in ATP7B gene. The aim of the work was to analyze clinical manifestations and course of Wilson’s disease cases, genetically verified in children by detecting mutations of ATP7B gene. The research group included children of 6-17 years old with different injury degrees of the hepatobiliary system. According to results of the molecular-genetic analysis, the most spread allele variant of ATP7B gene (H1069Q) in Europe was confirmed in 10 patients of child age, including 4 cases of homozygosity. In 10 cases of the confirmed diagnosis of Wilson’s disease in child age in 100% (in all 10) of persons, a clinical manifestation was characterized by disorders from the hepatobiliary system, and only in 1 (10 %) – changes from the nervous system. At raising the level of transaminase in children, even at the normal bilirubin level and negative tests for viral hepatitis, it is recommended to carry out genetic testing for Wilson’s disease

Expression of the Caeruloplasmin Gene in the Adult and Neonatal Rat Liver

1989 ◽  
Vol 77 (3) ◽  
pp. 259-263 ◽  
Author(s):  
L. Barrow ◽  
M. S. Tanner ◽  
D. R. Critchley
Keyword(s):  
Steady State ◽  
Rat Liver ◽  
Messenger Rna ◽  
Wilson’S Disease ◽  
Wilson's Disease ◽  
Serum Copper ◽  
Neonatal Rat ◽  
Neonatal Rats ◽  
Significant Difference ◽  
Steady State Levels

1. It has been suggested that low levels of serum caeruloplasmin in Wilson's disease result from the failure to switch from a fetal to an adult mode of caeruloplasmin gene expression. To investigate postnatal expression of the caeruloplasmin gene, steady-state levels of caeruloplasmin messenger RNA in adult and neonatal rat liver were measured. 2. Copper parameters observed in neonatal rats were similar to those seen in Wilson's disease: hepatic copper concentration was significantly elevated (neonatal 164 ± 35 μg/g, adults 50 ± 8 μg/g, P < .001) and serum copper and caeruloplasmin levels were low (neonatal 0.5 ± 0.1 μg/ml, adults 1.3 ± 0.2 μg/ml, P < .001; neonatal 0.20 ± 0.04 arbitrary units, adults 0.69 ± 0.16 arbitrary units, P < .001), respectively. 3. Caeruloplasmin messenger RNA levels were analysed by Northern and dot blotting using a 12P-labelled caeruloplasmin complementary DNA probe. A caeruloplasmin messenger RNA of approximately 4.4 kilobases was detected in both adult and neonatal rat liver, with no significant difference observed in steady-state levels. 4. A step subsequent to caeruloplasmin gene transcription must therefore be impaired in neonatal rats.

scholarly journals INITIAL ASSESSMENT FINDINGS IN PATIENTS WITH CONFIRMED WILSON’S DISEASE

2021 ◽  
Vol 5 (2) ◽  
pp. 161-167
Author(s):  
O. A. Zhigaltsova-Kuchinskaya ◽  
◽  
N. N. Silivontchik ◽  
S. A. Likhachev ◽  
I. V. Pleshko ◽  
...  
Keyword(s):  
Wilson’S Disease ◽  
Molecular Genetic ◽  
Wilson's Disease ◽  
Clinical Suspicion ◽  
Initial Assessment ◽  
Serum Free ◽  
Copper Excretion ◽  
Serum Ceruloplasmin ◽  
Urinary Copper ◽  
Urinary Copper Excretion

Bacground. The optimization of Wilson’s disease (WD) diagnosis is one of the most disputable problem. Objective. The retrospective study of initial assessment findings under clinical suspicion for WD in 102 patients with the confirmed diagnosis. Material and methods. The results of laboratory tests and Kaiser-Fleischer rings (KF rings) identification under clinical suspicion for WD in 102 patients with the confirmed diagnosis. Results. At stage I, 17 patients (16.7%; 95% CI 10.7–25.1) were defined as having clinically definitive WD based on the combination of low serum ceruloplasmin and KF rings, 4 patients (3.9%; 95% CI 1.5–9.7) – based on the drop of ceruloplasmin level. After stage II, involving 24-hour urinary copper excretion evaluation, the rate of definitive diagnosis of WD reached 24,5% (95% CI 17.2 33.7). After stage III (genotyping for carriage of ATP7B gene mutations) – 56.9% (95% CI 47.2–66.0). Serum free copper increase was found in 54.9% (95% CI 41.4 67.7) of cases. Conclusions. Under clinical suspicion for WD, initial structured ophthalmological, laboratory and molecular-genetic assessment ensured the diagnosis of WD only in 56.9% (95% CI 56.9; 47.2–66.1). Frequent detection of serum free copper increase (54.9%, 95% CI 41.4 67.7) allows to use this test due to its greater availability as compared with 24-hour urinary copper excretion evaluation in WD diagnostics.

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

Usefulness of penicillamine-stimulated urinary copper excretion in the diagnosis of adult Wilson's disease

2008 ◽  
Vol 43 (5) ◽  
pp. 597-603 ◽  
Author(s):  
José Ramón Foruny ◽  
Daniel Boixeda ◽  
Antonio López-Sanroman ◽  
Enrique Vázquez-Sequeiros ◽  
Mónica Villafruela ◽  
...  
Keyword(s):  
Wilson’S Disease ◽  
Wilson's Disease ◽  
Copper Excretion ◽  
Urinary Copper ◽  
Urinary Copper Excretion

scholarly journals Fulminant Wilson’s Disease Managed with Plasmapheresis as a Bridge to Liver Transplant

2014 ◽  
Vol 2014 ◽  
pp. 1-4 ◽  
Author(s):  
Talal Hilal ◽  
R. Scott Morehead
Keyword(s):  
Liver Failure ◽  
Liver Transplant ◽  
Wilson’S Disease ◽  
Acne Vulgaris ◽  
Wilson's Disease ◽  
Serum Copper ◽  
Adjunctive Treatment ◽  
Fulminant Liver Failure ◽  
Parenchymal Liver ◽  
Pathologic Processes

New-onset jaundice can be a manifestation of multiple pathologic processes including hemolysis, parenchymal liver disease, and cholestasis; the differential diagnosis is broad and requires a systematic approach. We report a case of a patient who presented with jaundice after starting minocycline for the treatment of acne vulgaris and rapidly developed fulminant liver failure found to be due to Wilson’s disease. She also manifested severe Coomb’s negative hemolytic anemia and renal failure secondary to hepatorenal syndrome. As a bridge to liver transplant, she was successfully treated with plasmapheresis to decrease serum copper in addition to hemodialysis for acidosis and hyperkalemia. She was able to receive a liver and made a full recovery. The case highlights the use of plasmapheresis as an adjunctive treatment modality in cases of fulminant liver failure due to Wilson’s disease.

scholarly journals Bipolar Disorder and Wilson’s Disease: A Case Report

2015 ◽  
Vol 3 (2) ◽  
pp. 50-52 ◽  
Author(s):  
S Bhagat ◽  
H Nepal ◽  
A K Verma
Keyword(s):  
Bipolar Disorder ◽  
Case Report ◽  
Wilson’S Disease ◽  
Bipolar Depression ◽  
Wilson's Disease ◽  
Serum Ceruloplasmin ◽  
Urinary Copper ◽  
Low Serum

Wilson’s disease is an uncommon inherited disorder characterized by low serum ceruloplasmin levels, hypercupriuria and Kayser-Fleischer rings. Here we describe the case of a young boy who presented with symptoms of bipolar depression along with bilateral hand tremors. He was started with Quetiapine but symptoms did not improve. Investigations revealed cirrhotic changes of liver, low serum ceruloplasmin levels, presence of Kayser-Fleischer rings. The diagnosis of Wilson’s disease was confirmed by high 24hr. urinary copper levels. Bipolar symptoms improved after 7 months of initiation of oral penicillamine treatment.J Psychiatric Association of Nepal Vol .3, No.2, 2014, pp: 50-52DOI: http://dx.doi.org/10.3126/jpan.v3i2.12399

scholarly journals Urinary Copper Elevation in a Mouse Model of Wilson's Disease Is a Regulated Process to Specifically Decrease the Hepatic Copper Load

PLoS ONE ◽  
2012 ◽  
Vol 7 (6) ◽  
pp. e38327 ◽  
Author(s):  
Lawrence W. Gray ◽  
Fangyu Peng ◽  
Shannon A. Molloy ◽  
Venkata S. Pendyala ◽  
Abigael Muchenditsi ◽  
...  
Keyword(s):  
Mouse Model ◽  
Wilson’S Disease ◽  
Wilson's Disease ◽  
Hepatic Copper ◽  
Urinary Copper
Sign in / Sign up

Export Citation Format

Share Document