Wilsons Disease in a Young Boy with Hepatic Failure and Vitamin -D Deficiency (original) (raw)
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WILSON'S DISEASE: A REVIEW OF TWO CLINICAL CASES AND LITERATURE REVIEW (Atena Editora)
WILSON'S DISEASE: A REVIEW OF TWO CLINICAL CASES AND LITERATURE REVIEW (Atena Editora), 2024
Wilson's disease, also known as hepatolenticular degeneration, is a rare genetic disease of copper metabolism. Its basic pathophysiology is a mutation in the ATP7B gene, which results in a defective protein for the transport of this metal. As a result, excessive accumulation of copper occurs in the body, especially in the brain and liver, causing neurological, psychiatric, ophthalmic and hepatic symptoms. Thus, clinical presentations are varied and the diagnosis represents a challenge for health professionals, as it is not always obtained in a simple way, requiring a high level of suspicion and inclusion of Wilson's disease in the list of differential diagnoses in patients with presentations complex clinics. Although difficult, the diagnosis is extremely important, as at the same time, the institution of treatment prevents the onset of a degenerative and debilitating condition. In this context, the present work aims to report two clinical cases of patients with Wilson's disease, in addition to carrying out a narrative review of the literature on the topic.
Wilson’s disease: A Review on Clinical Presentation, Diagnostic Methods and Treatment
International Journal of Health Sciences and Research, 2016
Wilson’s disease is an inherited disorder characterized by the excessive accumulation of copper or abnormal copper metabolism. It occurs predominantly in the liver and brain. The genetic factor leading to Wilson’s disease is the mutation of copper transporting gene ATP7B.The main clinical symptoms in Wilson’s disease include neurological, psychiatric and hepatic. The primary treatment in Wilson’s disease is use of copper chelating agent such as D-penicillamine and trientine. This review discusses the pathophysiology, etiology, clinical presentation, diagnosis and management of Wilson’s disease.
Wilson’s disease: A case report with review of literature
Indian Journal of Case Reports, 2018
Wilson's disease is a rare inborn error of metabolism characterized by abnormal deposition of copper in various tissues caused by the inability to excrete copper into the bile. Wilson's disease is also known as hepatolenticular degeneration because liver and lentiform nuclei in the brain are the most commonly involved areas. Cerebral involvement in Wilson's disease results in typical characteristic radiological signs on magnetic resonance imaging (MRI). Here, we report the case of a 27-year-old female who presented with neurologic manifestations and diagnosed as Wilson's disease with typical MRI findings.
Wilson’s Disease - A Case Report
International Journal of Contemporary Medical Research [IJCMR], 2019
Introduction: Wilson's disease (WD) is a disorder of copper metabolism leading to the accumulation of this metal in different organs. Hepatic manifestations tend to occur in the first decade and neurological symptoms in the third decade. Neurological manifestations are said to worsen with chelation therapy. Case report: In our patient however the initial manifestation was head tremor at the age of 43 years which improved with treatment. The patient for some reason stopped the therapy for 8 years after which he decided to resume it only to precipitate the liver cirrhosis clinically -something that has not been reported earlier. The diagnosis was missed initially. However treatment produced good results. The case also serves as a reminder not to dismiss this disease as a rare theoretical possibility but to suspect it in a case of liver cirrhosis of unknown etiology or when the patient presents with an obscure isolated neurological sign such as tremor. Delayed recognition of the disease or stopping therapy can lead to a progression of the disease. The patient had many unusual features which are being reported for future reference by researchers and practioners.
Challenging diagnosis of Wilson’s disease – a case report
2023
Wilson's disease is a rare inherited disorder of copper metabolism. If left untreated, it can turn into a multi systemic disease with copper deposition in the liver, brain, and other tissues. Diagnosis of Wilson's is delayed in Pakistan by many years on average due to variable presentations. In adolescents, the initial signs are more likely to be neuropsychiatric. Here we present a case of Wilson's disease that presented initially with hepatic symptoms and did not have signs specific to the disease such as Kayser-Fleischer rings. Our case was diagnosed to be Wilson's Disease only on further investigations and subsequently the patient was treated with chelation therapy using D-Penicillamine.Wilson's Disease should be kept in mind as a differential diagnosis in adolescent patients that present with unexplained acute liver failure and cytopenias without any neurological symptoms, as a missed diagnosis can prove to be fatal.
Wilson's disease: Experience at a tertiary care hospital
Journal of the College of Physicians and Surgeons, 2013
Wilson's disease (WD) is a rare autosomal recessive disorder of copper metabolism. Data regarding WD is not available from Pakistan. A cross-sectional study was conducted at The Aga Khan University Hospital, Karachi, and all patients admitted with primary and secondary diagnosis of Wilson's disease were added. A total of 47 patients were seen; 68% (n = 32) were male. The mean age was 26.6 ± 9.97 years. Most of the patients presented with hepatic, (n = 22, 46.8%), neurological, (n = 17, 36.2%) and psychiatric (n = 8, 17%) symptoms. Mean ceruloplasmin level was 0.17 ± 0.13 g/dl; it was < 0.25 g/dl in 39 (86.6%) patients. Serum copper (Cu) was reduced in 32 (68.1%) patients and 24-hr-urinary Cu was raised in 22 (47.6%) patients. Slit lamp examination for Kayser-Fleischer (KF) rings was done on 15 (31.9%) patients and 9 (60%) of them had KF rings. Mean serum aspartate transaminase (AST) / alanine transaminases (ALT) ratio was 1.92 and median alkaline phosphatase / total bilir...
Wilson ’s Disease: A Short Review
Khyber Medical University Journal, 2011
Although first described in the early 1900s, the pathogenesis of Wilson's disease was identified in the mid-1900s. It is an inherited error of copper metabolism that predominantly presents with hepatic and/or neurological manifestations. Hepatic form of Wilson's disease can have varied presentations from acute hepatitis to liver cirrhosis and end stage liver disease necessitating liver transplantation. In addition to the liver and brain other organs like eyes, kidneys and bones are frequently involved. Although infrequent, Wilson's disease is not rare in Neuromedicine, Hepatology and Ophthalmology practices. Chelation therapy remains the mainstay of treatment and several copper chelating agents are now available.
Wilson’s Disease with Late Hepatic Involvement
JOURNAL OF CLINICAL AND DIAGNOSTIC RESEARCH
Wilson’s Disease (WD) is an autosomal recessive condition that affects copper metabolism and manifests itself clinically in different ways. The diagnosis is indicated by low serum copper and ceruloplasmin concentrations, increased urine copper excretion and/ or increased hepatic copper concentrations. The present case report is about a 55-year-old male with chief complaints of loss of appetite, abdominal swelling, tremors in hand and head, slurring of speech for 10 days. Ultrasound (USG) findings were suggestive of liver cirrhosis with portal hypertension and liver function tests were also deranged. He was prescribed diuretics and asked to review after 10 days. Kayser-Fleischer ring was observed through slit lamp examination in both the eyes, which is a hallmark of WD. The Magnetic Resonance Imaging (MRI) of brain also revealed positive findings-hyperintensity throughout the mesencephalon for WD. Thereafter, the patient was treated with penicillamine and his symptoms improved after ...
The Lancet, 2007
Progressive hepatolenticular degeneration, or Wilson's disease, is a genetic disorder of copper metabolism. Knowledge of the clinical presentations and treatment of the disease are important both to the generalist and to specialists in gastroenterology and hepatology, neurology, psychiatry, and paediatrics. Wilson's disease invariably results in severe disability and death if untreated. The diagnosis is easily overlooked but if discovered early, eff ective treatments are available that will prevent or reverse many manifestations of this disorder. Studies have identifi ed the role of copper in disease pathogenesis and clinical, biochemical, and genetic markers that can be useful in diagnosis. There are several chelating agents and zinc salts for medical therapy. Liver transplantation corrects the underlying pathophysiology and can be lifesaving. The discovery of the Wilson's disease gene has opened up a new molecular diagnostic approach, and could form the basis of future gene therapy.
Analysis of clinical and biochemical spectrum of Wilson Disease patients
Indian Journal of Pathology and Microbiology, 2012
Background and Aims: Wilson disease (WD) is autosomal recessive disorder of copper metabolism. Wilson disease patients usually suffer from hepatic or neuropsychiatric complications. The symptoms appear between ages fi ve to 35 but it can vary from two years to 72 years. Materials and Methods: Study was carried out from June 2008 to November 2010. This study included nine families with eleven cases of WD to determine clinical presentation, diagnostic fi ndings (including laboratory results) and liver histology. It included 11 patients who presented with hepatic manifestations and/or Neuropsychiatric manifestations and/or family history suggesting features of WD. Patients with hepatitis B and C and those with history of taking antipsychotic drugs were excluded from the study. Patient's data was included in a well designed performa. Liver function test, serum ceruloplasmin, serum copper, 24 hour urinary copper, blood complete picture were analyzed. Quantitative data such as age, hemoglobin etc were expressed as mean with ± SD and quantitative variables such as sex, movement disorders, hepatic involvement etc were expressed as frequency and percentage. Results: There were fi ve male and six female patients with evidence of various manifestations here (i) hepatic in which they had only liver dysfunction (ii) hepatic and neurological (iii) neurological. The mean age of presentation was 8.7±3.92 years (range 4-19 years) and 45% were male patients. Decreased serum ceruloplasmin, enhanced 24-h urinary copper excretion and signs of chronic liver damage were confi rmed in all patients and Kayser-Fleischer rings (KF rings) in 72% of patients. In severe WD patients, serum prothrombin activity was less than 50%, serum ceruloplasmin were low and serum copper levels were high than those in non-severe WD patients. High degree of suspicion leads to early treatment with good outcome. Conclusions: The WD is rare but important cause of chronic liver disease. Clinical and biochemical analysis in cases of patients with unexplained liver disease with high degree of suspicion can lead to early treatment with good outcome.