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- W3093551510 abstract "Introduction and Aim: Wilson disease is one of the common metabolic liver diseases of the liver due to inborn error of copper metabolism with varied clinical manifestations. We conducted this study to analyze clinical profile of this disease which will help in early diagnosis and management. Materials and Methods: The study was conducted in the Department of Medical Gastroenterology, Govt. Stanley medical college Chennai, from October 2017 to December 2018. 24 Patients diagnosed to have Wilson disease were taken into the study. Wilson disease was diagnosed based on modified Leipzig score. Patients were analysed based on their clinical features at the time of presentation. Results: Majority of the patients were in the age group 15-30 years (56%). Male to female ratio was 15:9. Majority of the patients presented with hepatic manifestations (54%), jaundice was found in 50% patients and 41% patients had ascites. 16% patients had neurologic manifestations and 12.5% patients had both hepato-neurologic features. 16% patients were presymptomatic and was diagnosed on family screening. KF ring was present in 66% patients. 58% of patients were born out of consanguineous marriage. Conclusion: Consanguinity plays an important role in high frequency of disease. Family screening is important for early diagnosis. Hepatic manifestations were found to be more common. Wide variety of clinical presentations emphasize the high index of clinical suspicion especially in young patients with hepatic manifestations. Further large scale follow up studies warranted in view of high degree of consanguinity in India." @default.
- W3093551510 created "2020-10-29" @default.
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- W3093551510 date "2020-09-01" @default.
- W3093551510 modified "2023-10-16" @default.
- W3093551510 title "STUDY OF CLINICAL PROFILE OF WILSON DISEASE IN A TERTIARY CARE CENTER" @default.
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- W3093551510 doi "https://doi.org/10.36106/ijsr/6210918" @default.
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