35岁以上肝豆状核变性患者的临床特征分析OACSTPCD

Objective To investigate the clinical features of patients with hepatolenticular degeneration(HLD)aged above 35 years.Methods A retrospective analysis was performed for the clinical data of the patients with HLD,aged above 35 years,who attended West China School of Public Health,Sichuan University,from April 2018 to April 2023,and according to their clinical symptoms,they were divided into mixed type group with 13 patients,liver type group with 12 patients,and brain type group with 5 patients.Related data were collected,including general information(sex,clinical manifestation,age at confirmed diagnosis,time from initial symptoms to confirmed diagnosis,and family history),laboratory examination(routine blood test,liver and renal function,serum copper,serum ceruloplasmin,urinary copper,and coagulation function),and radiological examination.A one-way analysis of variance was used for comparison of normally distributed continuous data between multiple groups,and the Kruskal-Wallis H test was used for comparison of non-normally distributed continuous data between multiple groups;the Fisher's exact test was used for comparison of categorical data between groups.Results For the 30 patients with HLD,the male/female ratio was 3∶1,and the mean age was 46.13±5.88 years;the patients with positive Kayser-Fleischer ring of the cornea accounted for 43.33%,and the patients with liver cirrhosis accounted for 66.67%.There were significant differences between the three groups in globulin,albumin/globulin ratio,alanine aminotransferase,prothrombin time,international normalized ratio,and activated partial thromboplastin time(F=5.893,4.513,4.424,5.029,5.248,and 4.942,all P<0.05).Conclusion Most patients are male among the patients diagnosed with HLD after 35 years of age,with the main clinical types of mixed type and liver type,and such patients tend to have poor liver and coagulation functions.For unexplained liver function abnormalities and liver cirrhosis in this age group,the indicators such as serum ceruloplasmin and urinary copper should be screened as early as possible,and liver and kidney function and coagulation function should be monitored.