Wilson disease; analysis of 34 Turkish patients (original) (raw)
Related papers
Varied presentations of Wilson’s Disease in Childhood - A Case Series and Review of Literature
Journal of Nepal Paediatric Society, 2021
Wilson’s disease is an autosomal recessive disorder of copper metabolism associated with deposition of copper in various organs including the heart and the brain. Hepatic manifestations are the commonest but various extrahepatic manifestations are known which include neuropsychiatric features, haemolytic anaemia, arthropathy etc. Knowledge of all these manifestations result in early clinical suspicion and the diagnosis of Wilson’s disease is confirmed by increased urinary copper levels and decreased serum cerruloplasmin level. Other tests which can be done to confirm the diagnosis include molecular testing and liver copper estimation. Once diagnosed, Wilson’s disease should be treated with chelating agents (e.g. d-penicillamine) and restriction of dietary copper. Timely treatment with zinc acetate or d-penicillamine prevents progression of the disease in asymptomatic children. Adequate chelation also results in good overall prognosis even in symptomatic children. Here we report a ca...
Scripta Scientifica Medica, 2014
PURPOSE: Wilson disease (WD) is an autosomal recessively inherited disorder of copper accumulation and toxicity. Its recognition is easy in the presence of typical clinical presentations. Unexplained liver test abnormalities are a diagnostic challenge and require more examinations. The objective of this study is to assess the diagnostic value of ceruloplasmin, 24-hour urine copper excretion and Leipzig scoring system in WD. MATERIAL AND METHODS: Sixty-five patients with WD (22 females and 43 males) and a control group of 17 patients with other chronic liver diseases (CLD) were analyzed. The values of the parameters of copper metabolism and Leipzig scoring system were evaluated. RESULTS: Average ceruloplasmin level was under 0,2 g/L and 24-hour urinary copper concentration was increased. D-penicillamine challenge test showed a mean value of 17,4 µmol/24 hours of urinary copper excretion in WD patients versus 5,46 µmol/24 hours in CLD ones. According to the Leipzig scoring diagnostic criteria, 58 WD patients (89,23% of the cases) presented with a score ≥4 (maximal value of 12). Score 3 was found out in seven patients, however, the exclusion of other etiology and the clinical course of the disease confirmed the diagnosis. The control subjects presented with a score ≤3 as it was ≤2 in 76,5% of the cases. CONCLUSION: Our results confirm the diagnostic value for WD of the Leipzig scoring system combined with clinical symptoms, laboratory parameters of copper metabolism, genetic testing and liver biopsy in clinical practice.
Wilson Disease in Children: Diagnosis and Management Update
KYAMC Journal, 2021
Wilson disease is an autosomal recessive, copper storage disease, caused by a mutation in the ATP7B gene. Due to mutation in ATP7B is decreased secretion of ceruloplasmin into blood and decrease in excretion of copper into bile. Excess copper accumulate to toxic levels,mainly in the liver and secondarily in other organs. Children clinically become symptomatic after the age of 5 years. Clinical features ranges from asymptomatic raised transaminases to variable degree of liver disease, neurological symptoms and according involvement of other oragns. Diagnosis of Wilson disease is challenging. Modified Leip-zig score is useful for diagnosis. Treatment can be done with zinc and other chelators. KYAMC Journal Vol. 11, No.-4, January 2021, Page 212-217
International Journal of Pharmacy and Pharmaceutical Sciences, 2021
Wilson's disease is a rare inherited disorder and is characterized by the accumulation of copper in various tissues and also in organs like the liver, brain, kidneys and cornea. Symptoms in paediatrics characteristically appear with hepatic involvement. In this case we have discussed about an eleven-year-old male child, who was presented to the Paediatric department in a tertiary care hospital with chief complaints of yellowish discoloration of eyes, dark coloured urine and high grade fever. Due to the accumulation of copper there were decreased levels of ceruloplasmin and there was an increased 24 hour urinary copper, which confirms the Wilson's disease in this child. Child was treated with Cephalosporin antibiotics, vitamins, laxative, and bile acid sequestrants. Child showed gradual improvement in clinical symptoms and got discharged without any further event. Quality of evidence was assessed according to the GRADE system. Early diagnosis and management helped to prevent serious complications.
Pediatric Wilson’s disease: findings in different presentations. A cross-sectional study
Sao Paulo Medical Journal, 2018
Wilson's disease (WD) is a rare autosomal recessive disorder of copper metabolism that occurs due to mutations in the copper-transporting ATP7B gene. Impaired excretion of copper through bile and decreased incorporation into ceruloplasmin cause excessive copper accumulation in different organs, including the liver, brain and cornea. 1-5 WD typically begins with a presymptomatic period, during which copper accumulation in the liver causes subclinical hepatitis, and progresses to liver cirrhosis and development of neuropsychiatric symptoms. There is no single diagnostic test that can rule out or confirm WD with certainty. Because of the lack of such a test, the diagnosis needs to be based on a combination of clinical features and laboratory, neuroradiological and pathological findings and also on the results from genetic analysis. 5-10 Pharmacological treatment of WD has the aim of preventing further accumulation of copper, through either reducing its absorption or promoting its excretion in urine or bile, or both. 5,6 The indications for liver transplantation to cure WD include progressive liver failure, progressive neurological symptoms, complications from portal hypertension (despite medical and dietary therapy) and acute liver failure. 5,6 There are not many detailed studies investigating pediatric WD series in the literature. 5-10 In the present study, we aimed to evaluate clinical presentations and laboratory findings among 64 children who were diagnosed with WD in our clinic over a nine-year period, and to determine their response to treatment and their prognosis from the follow-up.
A Case Report on Wilson’s Disease: A Rare Clinical Condition of Copper Deposition in Liver
International Journal of Pharmacy and Pharmaceutical Sciences, 2021
Wilson’s disease is a rare inherited disorder and is characterized by the accumulation of copper in various tissues and also in organs like the liver, brain, kidneys and cornea. Symptoms in paediatrics characteristically appear with hepatic involvement. In this case we have discussed about an eleven-year-old male child, who was presented to the Paediatric department in a tertiary care hospital with chief complaints of yellowish discoloration of eyes, dark coloured urine and high grade fever. Due to the accumulation of copper there were decreased levels of ceruloplasmin and there was an increased 24 hour urinary copper, which confirms the Wilson’s disease in this child. Child was treated with Cephalosporin antibiotics, vitamins, laxative, and bile acid sequestrants. Child showed gradual improvement in clinical symptoms and got discharged without any further event. Quality of evidence was assessed according to the GRADE system. Early diagnosis and management helped to prevent serious ...
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.
Re-evaluation of the Diagnostic Criteria for Wilson Disease in Children With Mild Liver Disease
2010
The diagnosis of Wilson disease (WD) is challenging, especially in children. Early detection is desirable in order to avoid dramatic disease progression. The aim of our study was to re-evaluate in WD children with mild liver disease the conventional diagnostic criteria and the WD scoring system proposed by an international consensus in 2001. Forty children with WD (26 boys and 14 girls, age range 5 1.1-20.9 years) and 58 age-matched and sex-matched patients with a liver disease other than WD were evaluated. Both groups were symptom-free and had elevated aminotransferases as predominant signs of liver disease. In all WD patients, the diagnosis was supported by molecular analysis, the liver copper content, or both. A receiver operating characteristic (ROC) analysis of ceruloplasmin at the cutoff value of 20 mg/dL showed a sensitivity of 95% [95% confidence interval (CI) 5 83%-99.4%] and a specificity of 84.5% (95% CI 5 72.6%-92.6%). The optimal basal urinary copper diagnostic cutoff value was found to be 40 lg/24 hours (sensitivity 5 78.9%, 95% CI 5 62.7%-90.4%; specificity 5 87.9%, 95% CI 5 76.7%-95%). Urinary copper values after penicillamine challenge did not significantly differ between WD patients and control subjects, and the ROC analysis showed a sensitivity of only 12%. The WD scoring system was proved to have positive and negative predictive values of 93% and 91.6%, respectively. Conclusion: Urinary copper excretion greater than 40 lg/24 hours is suggestive of WD in asymptomatic children, whereas the penicillamine challenge test does not have a diagnostic role in this subset of patients. The WD scoring system provides good diagnostic accuracy. W ilson disease (WD) is an autosomal recessive disorder of copper metabolism caused by mutations in a gene [ATPase, Cuþþ transporting, beta polypeptide (ATP7B)] encoding a copper-transporting, P-type ATPase. 1 This disease leads to progressive copper accumulation in the liver and subsequent deposition in other organs, such as the nervous system, corneas, kidneys, bones, and joints. The distribution of the metal in diverse organs over time accounts for the wide range of clinical manifestations. 2 In the pediatric age bracket, most cases have a hepatic presentation. In the available series, the percentage of WD children presenting with isolated elevated serum aminotransferases ranges from 14% to 88%; this depends on the health policy and the type of health care provided. 3-5 However, there is evidence that alterations in liver function tests may precede the onset of symptoms for a considerable time. Neurological symptoms are more frequent in adolescents and young adults 6-8 and are found in only 4% to 6% of pediatric cases with hepatic onset. If WD is not recognized and adequately treated, the progression of hepatic and neurological damage can be very rapid, and fulminant liver failure can occur. Therefore, the prompt detection of this condition is vital. Unfortunately, the diagnosis of WD is an especially challenging task in children because the conventional criteria established for adults are not always appropriate for children. In particular, basal urinary copper excretion in most WD children is lower than the extensively accepted cutoff value of 100 lg/24
Clinicopathologic findings in 35 children with Wilson disease
Jordan Medical Journal
Background and Aim: Wilson disease is a rare autosomal recessive disorder of copper metabolism. Wilson disease is the most common metabolic cause of fulminant hepatic failure in children over the age of 3 years. The aim of this study was to find the major clinical & pathologic findings of Wilson disease in children in Tehran.
Biological Trace Element Research, 1998
Wilson’s disease is an autosomal recessive disorder of copper accumulation in various organs, with most common clinical manifestations such as hepatic, neurological, and renal dysfunctions. Serum copper and ceruloplasmin in Wilson’s disease were significantly lower as compared to normals, controls, and relatives of Wilson’s disease patients, whereas marked hypercupriuria (145 ± 7 μg/24 h) was observed in Wilson’s children only. A good correlation (r = 0.92) was found between non-ceruloplasmin-bound copper and 24-h urinary copper excretion in Wilson’s disease patients. Further, copper studies among the different phenotypes of Wilson’s disease revealed substantially low serum ceruloplasmin and a marked hypercupriuria in Wilson’s disease children associated with renal tubular acidosis as compared to the patients with either hepatological or neurological manifestations. Serum ceruloplasmin levels in 14 patients of Wilson’s disease were between 14 and 20 mg/dL. These patients of Wilson’s disease were confirmed by measuring liver biopsy copper, which was about nine times higher than normal hepatic copper content. During the family screening by copper studies, four asymptomatic siblings were diagnosed for Wilson’s disease. These subjects were then started on D-penicillamine therapy because presymptomatic treatment prevents progression of the disease complications.