wilson's disease is a rare but treatable condition with variable clinical presentations. its diagnosis depends on a combination of clinical and laboratory findings. we evaluated the clinical and laboratory findings in children with wilson's disease (wd). twenty -seven children (4-14 years, 59.2 % male, 40.7% female) with confirmed wd were evaluated between 1994 and 2003 at imam khomei...

background liver cirrhosis is one of the major causes of hospitalization and mortality in children. a wide spectrum of disorders including developmental abnormali­ties, infections, metabolic and genetic disorders can lead to liver cirrhosis in pediatric patients. determination of its etiology is important for treatment mo­dality, prevention of progressive liver damage, family counseling and pri...

introduction: the wilson disease is an autosomal recessive disease in which the liver, central nervous system, eyes, blood and other parts of the body involved. timely diagnosis and appropriate treatment of the disease requires awareness of the clinical presentations of this disease in children.methods: this case series study included 62 patients with wilson disease who admitted to children&apo...

Introduction: The Wilson disease is an autosomal recessive disease in which the liver, central nervous system, eyes, blood and other parts of the body involved. Timely diagnosis and appropriate treatment of the disease requires awareness of the clinical presentations of this disease in children.Methods: This case series study included 62 patients with Wilson disease who admitted to children's M...

objective wilson disease (wd) is an inherited copper metabolism dysfunction disease characterized by cirrhosis and cns findings. wilson disease is important because it is fatal if not recognized and treated. our goal of study is to investigate the clinical signs and symptoms, lab results and other relevant matters in our patients in order to obtain a better understanding of this potentially let...

wilson disease is a metabolic disorder with an autosomal recessive genetic pattern and occurs in 1-4 of every 100000 individuals. inactivation of the atp7b gene leads to accumulation of the toxic copper to liver and brain causing hepatic and neurological complication. therefore, most patients suffer from chronic hepatic inflammation and central nervous system disorder. nowadays, up to 500 mutat...

bacground: wilson's disease is a rare autosomal recessive disorder characterized by toxic accumulation of copper in liver and brain. the disorder is caused by mutations in the atp7b gene, encoding a copper transporting p-type atpase. characterization of the spectrum of mutations in this gene is important both for diagnosis and genetic counseling of the families.materials and methods: we en...

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