Hepatolenticular Degeneration ; diagnosis ; therapy ; Humans

In order to help liver disease-related clinicians make reasonable decisions for the diagnosis and treatment of hepatolenticular degeneration, the Inherited and Metabolic Liver Disease Cooperative Group of Hepatology Branch of Chinese Medical Association organized relevant field domestic experts in 2021 to jointly compile this guideline based on the clinical and basic research progress.
Gastroenterology ; Hepatolenticular Degeneration/therapy* ; Humans

In order to help liver disease-related clinicians make rational decisions, the Inherited and Metabolic Liver Disease Cooperative Group of Hepatology Branch of Chinese Medical Association released the 2022 edition guidelines for hepatolenticular degeneration diagnosis and treatment. This article introduces the ten highlights of this guideline from the aspects of epidemiology, pathogenesis, clinical characteristics, laboratory tests, diagnosis, treatment, monitoring, and so forth, with practicality and operability as prominent features.
Gastroenterology ; Hepatolenticular Degeneration/therapy* ; Humans

Adolescent ; Child ; Female ; Hepatolenticular Degeneration ; therapy ; Humans ; Male ; Plasma Exchange

Wilson's disease (WD), or hepatolenticular degeneration, is an autosomal recessive inheritance disorder of copper metabolism caused by ATP7B gene mutation. As WD is an inherited disease of the nervous system that is not curable; early diagnosis with early and life-long treatment leads to better prognoses. Currently, the recommended treatment for WD is integrated Chinese and Western medicine. A number of studies indicate that treatment of integrative medicine can not only enforce the de-copper effect but also improve liver function, intelligence, and other factors. This article reviewed in detail the advantages of WD treated with Chinese and Western medicine together.
Hepatolenticular Degeneration ; diagnostic imaging ; physiopathology ; therapy ; Humans ; Integrative Medicine ; Medicine, Chinese Traditional ; Radiography

Adolescent ; Adult ; Child ; Child, Preschool ; Female ; Hepatolenticular Degeneration ; diagnosis ; therapy ; Humans ; Male ; Middle Aged ; Young Adult

Hepatolenticular Degeneration ; blood ; drug therapy ; Humans ; Sodium ; therapeutic use ; Suburethral Slings

OBJECTIVES: To study the efficacy of a low-copper diet guidance based on food exchange portions in children with hepatolenticular degeneration. METHODS: A self-controlled study was conducted from July 2021 to June 2022, including 30 children under the age of 18 who were diagnosed with hepatolenticular degeneration and poorly controlled with a low-copper diet. During the medical visit, personalized low-copper diet guidance was provided to the children and their parents using a copper-containing food exchange table and a copper food exchange chart. During home care, compliance with the low-copper diet of the children was improved by recording dietary diaries and conducting regular follow-ups. The changes in 24-hour urine copper level, liver function indicators, and the low-copper diet knowledge of the children's parents were observed before and after the intervention, with no change in the original drug treatment. RESULTS: After 8, 16, and 24 weeks of intervention, the 24-hour urine copper level decreased significantly compared to before intervention (P<0.05). When compared to 8-week intervention, the urine copper level decreased significantly after 16 and 24 weeks of intervention. The 24-hour urine copper level after 24 weeks of intervention decreased significantly compared to 16 weeks of intervention (P<0.05).After 24 weeks of intervention, the alanine aminotransferase and aspartate aminotransferase levels decreased significantly compared to before intervention (P<0.05). Additionally, in 16 of the cases (53%), alanine aminotransferase and aspartate aminotransferase returned to normal levels. Following 8 weeks of intervention, the low-copper diet knowledge of the children's parents increased significantly (P<0.05). CONCLUSIONS A low-copper diet guidance based on food exchange portions can effectively decrease the urine copper level and improve liver function in children with hepatolenticular degeneration. Furthermore, it can increase the low-copper diet knowledge of the children's parents.
Humans ; Child ; Hepatolenticular Degeneration/therapy* ; Alanine Transaminase ; Copper ; Food ; Aspartate Aminotransferases

Hepatolenticular degeneration (Wilson's disease, WD) is a kind of autosomal recessive genetic disease characterized by disorders of copper metabolism. It is caused by mutations in the ATP7B gene, resulting in impaired excretion of copper into the bile, and then pathological deposition in the liver, brain, and other organs. Early diagnosis and treatment can significantly improve the prognosis of patients with WD. However, there is still no clear consensus on the treatment and management of WD during pregnancy. Herein, the clinical management of WD during pregnancy is summarized for clinicians' reference.
Copper ; Copper-Transporting ATPases/genetics* ; Female ; Hepatolenticular Degeneration/therapy* ; Humans ; Mutation ; Pregnancy

Adolescent ; Child ; Child, Preschool ; Female ; Follow-Up Studies ; Hepatolenticular Degeneration ; diagnosis ; drug therapy ; Humans ; Male ; Zinc Sulfate ; therapeutic use