药物治疗儿童肝豆状核变性肝功能失代偿的效果观察.

Objective To investigate the effect of pharmacotherapy on decompensated liver function in children with hepatolenticular degeneration. Methods Three children with “liver cirrhosis and decompensated liver function” as the onset of hepatolenticular degeneration who were admitted to Jinshan Hospital Affiliated to Fudan University from August 1, 2015 to August 1, 2016 were enrolled, and ATP7B gene sequencing was performed to make a confirmed diagnosis. Clinical outcome was recorded. Results Compound heterozygous mutation of the ATP78 gene was detected in the three children. After comprehensive medical treatment, all children had improvements in hypoproteinemia and coagulation function, and two children had a reduced Child-Pugh score. Conclusion Hepatolenticular degeneration should be considered for children with unexplained abnormal liver function and even liver cirrhosis, and early diagnosis and timely pharmacotherapy can reduce the need for liver transplantation. [ABSTRACT FROM AUTHOR]