Publication: Varied presentations of Wilson’s Disease in Childhood - A Case Series and Review of Literature
| creativeworkseries.issn | ISSN 1990-7974 eISSN 1990-7982 | |
| dc.contributor.author | Chaudhary, Richa | |
| dc.contributor.author | Lohiya, Sham | |
| dc.contributor.author | Vagha, Keta | |
| dc.contributor.author | Damke, Sachin | |
| dc.date.accessioned | 2025-12-11T09:10:49Z | |
| dc.date.available | 2025-12-11T09:10:49Z | |
| dc.date.issued | 2021 | |
| dc.description | Richa Chaudhary Department of Paediatrics, Jawaharlal Nehru Medical College, Datta Meghe Institute of Medical Sciences (DMIMSDU), Sawangi (Meghe), Wardha, Maharashtra, India Sham Lohiya Department of Paediatrics, Jawaharlal Nehru Medical College, Datta Meghe Institute of Medical Sciences (DMIMSDU), Sawangi (Meghe), Wardha, Maharashtra, India https://orcid.org/0000-0003-0839-1168 Keta Vagha Department of Paediatrics, Jawaharlal Nehru Medical College, Datta Meghe Institute of Medical Sciences (DMIMSDU), Sawangi (Meghe), Wardha, Maharashtra, India Sachin Damke Department of Paediatrics, Jawaharlal Nehru Medical College, Datta Meghe Institute of Medical Sciences (DMIMSDU), Sawangi (Meghe), Wardha, Maharashtra, India https://orcid.org/0000-0002-2517-1995 | |
| dc.description.abstract | Abstract 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. | |
| dc.identifier | https://doi.org/10.3126/jnps.v41i2.31904 | |
| dc.identifier.uri | https://hdl.handle.net/20.500.14572/3564 | |
| dc.language.iso | en_US | |
| dc.publisher | Nepal Paediatric Society (JNPS) | |
| dc.subject | d-penicillamine | |
| dc.subject | different manifestations | |
| dc.subject | Wilson’s disease | |
| dc.title | Varied presentations of Wilson’s Disease in Childhood - A Case Series and Review of Literature | |
| dc.type | Article | |
| dspace.entity.type | Publication | |
| local.article.type | Case Series | |
| oaire.citation.endPage | 265 | |
| oaire.citation.startPage | 258 | |
| relation.isJournalIssueOfPublication | 70f2ee75-7114-4d4d-92c6-75b60827fd33 | |
| relation.isJournalIssueOfPublication.latestForDiscovery | 70f2ee75-7114-4d4d-92c6-75b60827fd33 | |
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