CLINICAL PROFILE OF WILSON DISEASE IN CHILDREN BETWEEN 1 AND 12 YEARS OF AGE ADMITTED AT A TERTIARY CARE CENTER

Autor: Hareesh Sanikam, Basavaraj Bheeman
Rok vydání: 2019
Předmět:
Zdroj: Indian Journal of Child Health. 6:375-378
ISSN: 2349-6126
2349-6118
DOI: 10.32677/ijch.2019.v06.i07.011
Popis: Background: Wilson disease (WD) is a rare autosomal recessive disorder characterized by the accumulation of copper in the liver, brain, cornea, and kidneys. Asymptomatic nature of disease at earlier stages leads to diagnostic enigma. Objective: The objective of this study was to study the clinical, biochemical, and histological profile of WD in children between 1 and 12 years of age. Methodology: It was a hospital-based descriptive study. All children between 1 and 12 years of age who were admitted with symptoms of liver disease and neuropsychiatric symptoms were screened for WD. Low serum ceruloplasmin (
Databáze: OpenAIRE