Long-term treatment and follow-up management of children with hepatolenticular degeneration

Hepatolenticular degeneration is the most common autosomal recessive disorder in childhood and is one of the few diseases that can be treated. Early diagnosis and initiation of lifelong low-copper diet and copper removal therapy can help to reduce the risk of disease onset ( for patients who are diagnosed before symptoms appear) , achieve long-term remission, and achieve good quality of life and a similar survival time as healthy people. Therefore, sticking to effective lifelong treatment is critical to improving the prognosis of such patients. With reference to clinical guidelines in China and foreign countries and a focus on actual problems in clinical treatment, this article discusses treatment concepts and their importance, as well as treatment regimens and follow-up management for patients with different clinical types in the stages of disease onset and maintenance treatment and patients who are diagnosed before symptoms appear.