8
views
0
recommends
+1 Recommend
0 collections
    0
    shares
      • Record: found
      • Abstract: not found
      • Article: not found

      Wilsonʼs Disease in Children : A Position Paper by the Hepatology Committee of the European Society for Paediatric Gastroenterology, Hepatology and Nutrition

      Read this article at

      ScienceOpenPublisherPubMed
      Bookmark
          There is no author summary for this article yet. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience.

          Abstract

          Clinical presentations of Wilson's disease (WD) in childhood ranges from asymptomatic liver disease to cirrhosis or acute liver failure, whereas neurological and psychiatric symptoms are rare. The basic diagnostic approach includes serum ceruloplasmin and 24-hour urinary copper excretion. Final diagnosis of WD can be established using a diagnostic scoring system based on symptoms, biochemical tests assessing copper metabolism, and molecular analysis of mutations in the ATP7B gene. Pharmacological treatment is life-long and aims at removal of copper excess by chelating agents as D-penicillamine, trientine, or inhibition of intestinal copper absorption with zinc salts. Acute liver failure often requires liver transplantation. This publication aims to provide recommendations for diagnosis, treatment, and follow-up of WD in children.

          Related collections

          Most cited references95

          • Record: found
          • Abstract: not found
          • Article: not found

          Diagnosis and treatment of Wilson disease: an update.

            Bookmark
            • Record: found
            • Abstract: found
            • Article: not found

            Diagnosis and phenotypic classification of Wilson disease.

            Wilson disease is an inherited autosomal recessive disorder of hepatic copper metabolism leading to copper accumulation in hepatocytes and in extrahepatic organs such as the brain and the cornea. Originally Wilson disease was described as a neurodegerative disorder associated with cirrhosis of the liver. Later, Wilson disease was observed in children and adolescents presenting with acute or chronic liver disease without any neurologic symptoms. While diagnosis of neurologic Wilson disease is straightforward, it may be quite difficult in non-neurologic cases. Up to now, no single diagnostic test can exclude or confirm Wilson disease with 100% certainty. In 1993, the gene responsible for Wilson disease was cloned and localized on chromosome 13q14.3 (MIM277900) (1, 2). The Wilson disease gene ATP7B encodes a P-type ATPase. More than 200 disease causing mutations of this gene have been described so far (3). Most of these mutations occur in single families, only a few are more frequent (like H1069Q, 3400delC and 2299insC in Caucasian (4-6) or R778L in Japanese (7), Chinese and Korean patients). Studies of phenotype-genotype relations are hampered by the lack of standard diagnostic criteria and phenotypic classifications. To overcome this problem, a working party discussed these problems in depth at the 8th International Meeting on Wilson disease and Menkes disease in Leipzig/Germany (April 16-18, 2001). After the meeting, a preliminary draft of a consensus report was mailed to all active participants and their comments were incorporated in the final text.
              Bookmark
              • Record: found
              • Abstract: found
              • Article: not found

              Clinical presentation, diagnosis and long-term outcome of Wilson's disease: a cohort study.

              Wilson's disease is a rare inborn disease related to copper storage, leading to liver cirrhosis and neuropsychological deterioration. Clinical data on larger cohorts are limited owing to low disease frequency. We performed a retrospective analysis of 163 patients with Wilson's disease, examined at the University of Heidelberg, Heidelberg, Germany, to determine clinical presentation, diagnostic course and long-term outcome. Diagnostic criteria for non-caeruloplasmin-bound serum copper, serum caeruloplasmin, 24-h urinary copper excretion, liver copper content, presence of Kayser-Fleischer rings and histological signs of chronic liver damage were reached in 86.6%, 88.2%, 87.1%, 92.7%, 66.3% and 73% of patients, respectively. By analysis of the coding region of ATP7B (except exons 2, 3 and 21), disease-causing mutations were detected in 57% and 29% of patients with Wilson's disease on both chromosomes and on one chromosome, respectively. No mutations were detected in 15% of patients with Wilson's disease. No significant differences were found in clinical parameters or initial presentation between patients grouped according to their mutations. The patients with neurological symptoms were significantly older at the onset of symptoms than patients with hepatitic symptoms (20.2 v 15.5 years of age, p<0.05), and the neurological symptoms were associated with a significantly longer time from onset to diagnosis than hepatic symptoms (44.4 v 14.4 months, p<0.05). After initiating treatment, 76.1% of the patients had a stable or improved course of the disease. Disease progression under treatment was more likely for neuropsychiatric than for hepatic symptoms. Side effects of treatment occurred in 74.4% of patients. Patients with Wilson's disease having predominantly neuropsychiatric symptoms manifest symptoms later, have a longer time delay from onset of symptoms until definitive diagnosis and have a poorer outcome than patients with hepatic symptoms.
                Bookmark

                Author and article information

                Journal
                Journal of Pediatric Gastroenterology and Nutrition
                Journal of Pediatric Gastroenterology and Nutrition
                Ovid Technologies (Wolters Kluwer Health)
                0277-2116
                2018
                February 2018
                : 66
                : 2
                : 334-344
                Article
                10.1097/MPG.0000000000001787
                29341979
                357b1d3d-5925-4f81-94ad-b21ecc8df154
                © 2018
                History

                Comments

                Comment on this article