Publication: Varied presentations of Wilson’s Disease in Childhood - A Case Series and Review of Literature
Date
2021
Journal Title
Journal ISSN
Volume Title
Publisher
Nepal Paediatric Society (JNPS)
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.
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
Keywords
d-penicillamine, different manifestations, Wilson’s disease