Clinical profile and outcome of Wilson disease in Indian children: A single centre study

Kini, Sandesh; Handattu, Koushik; Konda, Kalyan Chakravarthy; Bhat, Ramesh Y

doi:10.4038/sljch.v48i2.8706

Cited by 2 publications

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References 3 publications

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“…In our case series one patient presented with acute liver failure, four had chronic liver disease out of which two presented with acute deterioration. All our children had low serum ceruloplasmin and increased urinary copper levels which is similar to study by Kini et al 8 The accumulation of copper in various organs is the cause of wide range of manifestations in WD. The mutation in ATP7B gene results in accumulation of copper in the liver as copper excretion in the bile through P type ATPase is defective as a result of this mutation.…”

Section: Presentations Of Wilson's Diseases In Childhood; Chaudhary R Et Alsupporting

confidence: 90%

Varied presentations of Wilson’s Disease in Childhood - A Case Series and Review of Literature

Chaudhary

Lohiya

Vagha

et al. 2021

J. Nepal Paedtr. Soc.

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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 case series of nine children with different manifestations of Wilson’s disease throwing more light on the subject.

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Section: Presentations Of Wilson's Diseases In Childhood; Chaudhary R Et Alsupporting

confidence: 90%

Varied presentations of Wilson’s Disease in Childhood - A Case Series and Review of Literature

Chaudhary

Lohiya

Vagha

et al. 2021

J. Nepal Paedtr. Soc.

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Outcome of Wilson’s disease in Bangladeshi children: a tertiary center experience

Mahmud

Gulshan

Baidya

et al. 2022

Egypt Liver Journal

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Background Wilson disease (WD) is an inherited disorder of copper metabolism commonly involving the liver, cornea, and brain. Its incidence is increasing day by day worldwide. Early diagnosis and prompt treatment are the key for best outcome. Material and methods A cross-sectional descriptive study was done from January 2014 to December 2019. Sixty children of both genders between 3 and 18 years were diagnosed by clinical and laboratory profile meeting selected criteria. Results Mean age was 8.42 ± 2.6 years and male female ratio was 1.5:1. Consanguinity of marriage was found in 38.3% cases. Seventy percent of cases were hepatic, 16.7% were neuropsychiatric, 5.0% were hepatic with neuropsychiatric, and 8.3% cases were manifested asymptomatically. Asymptomatic and hepatic WD were reported between 3 and 10 years and most of the neuropsychiatric and hepatic with neuropsychiatric manifested after 10 years of age. More than 50% cases improved, a little more than 20% children died, 18.4% were unchanged and 6.6% were hepatic added neuropsychiatric manifestations. Most of the asymptomatic (100%) and hepatic (61.9%) cases improved. High mortality was found with 76.9% cases of acute liver failure (ALF), 7.7% case of chronic liver disease (CLD) and 25% cases of CLD with portal hypertension (CLD and PH). Most of the neuropsychiatric cases (90.0%), and approximately two-third (66.6%) of hepatic with neuropsychiatric cases remained unchanged. Neuropsychiatric manifestations were added in 15.4% cases of CLD and 25% cases of CLD with PH patient. The treatment was well tolerated in 66% children without any side effects. Low WBC (6.3%) and platelet count (4.3%), vomiting (6.3%), anorexia (4.3%), loss of taste (4.3%), rash (4.3%), and proteinuria (2.1%) were found in few cases. Conclusion Majority of the children were presented with hepatic manifestations. More than half of patients with WD treated by D-penicillamine (DP) were improved. Significant mortality was found in acute liver failure whereas neuropsychiatric presentations had persistent abnormalities. No major side effects of DP was observed in most of the cases. Early diagnosis and prompt treatment were crucial for better outcome.

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Clinical profile and outcome of Wilson disease in Indian children: A single centre study

Cited by 2 publications

References 3 publications

Varied presentations of Wilson’s Disease in Childhood - A Case Series and Review of Literature

Varied presentations of Wilson’s Disease in Childhood - A Case Series and Review of Literature

Outcome of Wilson’s disease in Bangladeshi children: a tertiary center experience

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