{"title":"Clinical and laboratory profile and outcome in children with Wilson disease: an observational study in South India.","authors":"Ranjini Srinivasan, Shilpa Dominic, Antony George","doi":"10.1080/20469047.2024.2396716","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>Wilson disease is an autosomal recessive disorder owing to defective copper metabolism which causes abnormal accumulation of copper and damage to the liver, brain, kidneys and other organs.</p><p><strong>Aim: </strong>To describe the clinical features, laboratory investigations and outcome of Wilson disease in children.</p><p><strong>Methods: </strong>A retrospective observational study was conducted in the paediatric department of a tertiary- care hospital in South India by reviewing medical records between January 2018 and March 2023. The diagnosis of Wilson disease was confirmed by the presence of low serum ceruloplasmin and/or high urine copper excretion in combination with clinical and ophthalmological features.</p><p><strong>Results: </strong>A total of 32 cases were analysed. The mean (SD) age at presentation was 110 (36) months with a M:F ratio of 1.6:1. Isolated hepatic involvement was seen in 19 (60%) patients while 13 (40%) patients had a neurological presentation, either as an isolated entity or in combination with hepatic manifestations. Low serum ceruloplasmin levels were detected in 31 (96%) patients. Urine copper levels were elevated in all patients. Twenty-one patients were commenced on D penicillamine while 11 patients were treated with a combination chelation therapy with zinc. Eighteen patients (56%) were on regular follow-up.</p><p><strong>Conclusion: </strong>The clinical presentation of Wilson disease in children is diverse, varying from the more common hepatic or neurological manifestations to the less common atypical forms of the disease. Diagnosis is based on clinical and ophthalmological features in combination with biochemical abnormalities in the form of low ceruloplasmin and high urinary copper. The majority of patients can be medically managed with chelation therapy.</p>","PeriodicalId":19731,"journal":{"name":"Paediatrics and International Child Health","volume":" ","pages":"131-140"},"PeriodicalIF":1.4000,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Paediatrics and International Child Health","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1080/20469047.2024.2396716","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/9/8 0:00:00","PubModel":"Epub","JCR":"Q3","JCRName":"PEDIATRICS","Score":null,"Total":0}
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Abstract
Background: Wilson disease is an autosomal recessive disorder owing to defective copper metabolism which causes abnormal accumulation of copper and damage to the liver, brain, kidneys and other organs.
Aim: To describe the clinical features, laboratory investigations and outcome of Wilson disease in children.
Methods: A retrospective observational study was conducted in the paediatric department of a tertiary- care hospital in South India by reviewing medical records between January 2018 and March 2023. The diagnosis of Wilson disease was confirmed by the presence of low serum ceruloplasmin and/or high urine copper excretion in combination with clinical and ophthalmological features.
Results: A total of 32 cases were analysed. The mean (SD) age at presentation was 110 (36) months with a M:F ratio of 1.6:1. Isolated hepatic involvement was seen in 19 (60%) patients while 13 (40%) patients had a neurological presentation, either as an isolated entity or in combination with hepatic manifestations. Low serum ceruloplasmin levels were detected in 31 (96%) patients. Urine copper levels were elevated in all patients. Twenty-one patients were commenced on D penicillamine while 11 patients were treated with a combination chelation therapy with zinc. Eighteen patients (56%) were on regular follow-up.
Conclusion: The clinical presentation of Wilson disease in children is diverse, varying from the more common hepatic or neurological manifestations to the less common atypical forms of the disease. Diagnosis is based on clinical and ophthalmological features in combination with biochemical abnormalities in the form of low ceruloplasmin and high urinary copper. The majority of patients can be medically managed with chelation therapy.
期刊介绍：
Paediatrics and International Child Health is an international forum for all aspects of paediatrics and child health in developing and low-income countries. The international, peer-reviewed papers cover a wide range of diseases in childhood and examine the social and cultural settings in which they occur. Although the main aim is to enable authors in developing and low-income countries to publish internationally, it also accepts relevant papers from industrialised countries. The journal is a key publication for all with an interest in paediatric health in low-resource settings.
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