Objective To analyze the clinical characteristics of children with Wilson's disease,and to improve the attention to Wil-son's disease in children.Methods The clinical data of 274 children with Wilson's disease admitted to the First Affiliated Hospital of Anhui University of Chinese Medicine from November 2020 to October 2022 were retrospectively analyzed.Results Among 274 children with Wilson's disease,aged 3 to 15 years,with a male/female ratio of 1.88∶1,the median age of onset was 5.6 years.Clinical classifica-tion:204 cases(74.5％)of liver type,19 cases(6.9％)of brain type,41 cases(15.0％)of mixed type,10 cases(3.6％)of other type.Age of onset:liver type＜other type＜mixed type＜brain type,the differences were statistically significant(P＜0.05).The main reasons for the initial diagnosis of 274 children were physical examination,family history and respiratory tract infection.Among them,135 cases(49.3％)with asymptomatic elevated transaminase.The abnormal rate of serum ceruloplasmin and 24-hour urine copper was 100％and 96.7％,respectively.The abnormal rates of hepatobiliary and spleen ultrasound,kidney ultrasound and craniocerebral mag-netic resonance imaging were 81.0％(204/218),15.6％(34/218)and 41.7％(48/115),respectively.The abnormal rate of hepato-biliary and spleen ultrasound and craniocerebral magnetic resonance examination increased with age,and the abnormal rate of renal ultra-sound and craniocerebral magnetic resonance examination was related to clinical classification.Conclusion The onset age of Wilson's disease in children is young,the initial symptoms are different,which is closely related to age and clinical classification,and has nothing to do with gender.For suspected children,relevant examinations should be improved to achieve the purpose of early diagnosis and treatment.

ObjectiveTo investigate the potential mechanisms and pathways through which Gandouling （GDL） exerts its effects in the treatment of liver fibrosis in Wilson disease. MethodsSixty male SD rats were randomly divided into six groups： the normal group， the model group， the GDL low-， medium-， and high-dose groups （0.24， 0.48， 0.96 g·kg^-1）， and the penicillamine group （90 mg·kg^-1）， with 10 rats in each group. A copper-loaded Wilson disease rat model was established by gavage administration of 300 mg·kg^-1 copper sulfate pentahydrate to all groups except the normal group. Hematoxylin-eosin （HE） staining and Masson staining were used to observe the pathomorphological changes in the liver. Enzyme-linked immunosorbent assay （ELISA） was employed to measure the levels of hyaluronic acid （HA）， laminin （LN）， procollagen type-Ⅲ peptide （PC-Ⅲ）， and collagen type-Ⅳ （C-Ⅳ）. Transmission electron microscopy was used to examine the ultrastructure of liver tissues. Real-time quantitative polymerase chain reaction （Real-time PCR） was used to detect the expression levels of liver tissues and serum exosomal long noncoding RNA H19 （LncRNA H19）， phosphatidylinositol 3-kinase （PI3K）， protein kinase B （Akt）， and mammalian target of rapamycin （mTOR）. Western blot analysis was performed to assess the expression levels of PI3K， Akt， mTOR， and their phosphorylated forms， as well as autophagy-related proteins Beclin1 and microtubule-associated protein 1 light chain 3B （LC3-Ⅱ/LC3-Ⅰ） in liver tissues. Beclin1 and LC3-Ⅱ fluorescence signal intensity was observed by immunofluorescence. ResultsCompared with the normal group， the model group exhibited inflammatory cell infiltration in hepatocytes， unclear nuclear boundaries with cell cleavage and necrosis， and collagen fiber deposition around confluent areas. The levels of HA， LN， PC-Ⅲ， and C-Ⅳ were significantly elevated （P<0.01）. Transmission electron microscopy revealed an increased number of autophagic vesicles， with autophagic lysosomes exhibiting a single-layer membrane structure following degradation of most envelopes. Expression levels of Beclin1 and LC3-Ⅱ/LC3-Ⅰ were significantly increased （P<0.01）， and fluorescence signals of Beclin1 and LC3-Ⅱ were markedly enhanced. The protein expression levels of PI3K， Akt， mTOR， p-PI3K， p-Akt， and p-mTOR were reduced （P<0.01）， while LncRNA H19 expression was increased （P<0.01）， and mRNA expression levels of PI3K， Akt， and mTOR were decreased （P<0.01）. After treatment with GDL， the degree of liver fibrosis was significantly improved， with decreased levels of HA， LN， PC-Ⅲ， and C-Ⅳ. The number of autophagic vesicles was significantly reduced， and expression levels of Beclin1 and LC3-Ⅱ/LC3-Ⅰ proteins were lower （P<0.01）. The fluorescence signals of Beclin1 and LC3-Ⅱ weakened dose-dependently. The protein levels of PI3K， Akt， mTOR， p-PI3K， p-Akt， and p-mTOR were elevated （P<0.01）， while the expression level of LncRNA H19 was reduced （P<0.01）. Furthermore， the mRNA expression levels of PI3K， Akt， and mTOR increased （P<0.05， P<0.01）. ConclusionGDL may alleviate liver fibrosis and reduce liver injury by regulating the PI3K/Akt/mTOR autophagy signaling pathway via LncRNA H19.