【摘要】 目的观察药物治疗对以肝功能失代偿起病的肝豆状核变性患儿的影响。方法收集2015年8月1日-2016年8月1日复旦大学附属金山医院收治的以"肝硬化,肝功能失代偿"起病的肝豆状核变性患儿3例,均经过ATP7B基因测序进一步确诊。所有患儿入院后立即给予低铜饮食和对症支持治疗,在明确肝豆状核变性的临床诊断后给予青霉胺和葡萄糖酸锌片联合治疗。记录患儿临床转归情况。结果 3例患儿均检测到ATP7B基因复合杂合突变。经内科综合治疗后,患儿低蛋白血症和凝血功能逐步改善,其中2例患儿Child-Pugh评分均有所降低。结论对于不明原因肝功能异常甚至肝硬化患儿,诊断需常规考虑肝豆状核变性,早期诊断、及时恰当的药物治疗可减少肝移植手术需求。更多还原

【Abstract】 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 ATP7 B 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.更多还原