背景:威尔逊氏病(WD)是一种常染色体隐性遗传疾病,其中铜(Cu)在器官中积聚,尤其是肝脏和中枢神经系统。本研究旨在调查患病率,发病率,以及韩国WD患者的治疗模式。
方法:分析了2010年至2020年的国家健康保险系统(NHIS)索赔数据。使用国际疾病分类(ICD)-10疾病代码E83.0和韩国罕见疑难杂症注册计划的记录,确定了至少一次以WD为主要或附加诊断的患者.
结果:2010年至2020年间,WD的年龄和性别调整后的平均患病率和发病率分别为3.06/100,000和0.11/100,000。初诊WD患者的平均年龄为21.0±15.9岁。在研究期间的622例WD事件中,19.3%的患者患有肝硬化,9.2%的患者接受了肝移植。分别有40.7%和48.1%的患者存在心理和神经系统疾病,分别。关于WD的诊断,只有51.6%的新病例进行了肝活检。D-青霉胺,Trientine,或锌在81.5%的事件病例中开了处方,随着年龄的增长,治疗吸收率下降。
结论:韩国WD的患病率为3.06/100,000,每年约有1800名患者使用医疗服务。相当比例的患者被诊断为肝硬化阶段,没有用铜螯合疗法治疗,提示需要早期诊断和适当治疗以改善预后。
BACKGROUND: Wilson\'s disease (WD) is an autosomal recessive disorder in which copper (Cu) accumulates in organs, particularly in the liver and central nervous system. This study aimed to investigate the prevalence, incidence, and treatment patterns of WD patients in Korea.
METHODS: National Health Insurance System (NHIS) claims data from 2010 to 2020 were analyzed. patients with WD as a primary or additional diagnosis at least once were identified using the International Classification of Diseases (ICD)-10 disease code E83.0 and a record for a registration program for rare intractable diseases in Korea.
RESULTS: The average age- and sex-adjusted prevalence and incidence of WD between 2010 and 2020 were 3.06/100,000 and 0.11/100,000, respectively. The mean age of the patients with newly diagnosed WD was 21.0 ± 15.9 years. Among the 622 WD incident cases during the study period, 19.3% of the patients had liver cirrhosis and 9.2% had received liver transplantation. Psychological and neurological diseases were present in 40.7% and 48.1% of the patients, respectively. Regarding the diagnosis of WD, liver biopsy was performed in only 51.6% of new cases. D-penicillamine, trientine, or zinc were prescribed in 81.5% of the incident cases, and the treatment uptake rates decreased with increasing age.
CONCLUSIONS: The prevalence of WD in Korea is 3.06/100,000 and approximately 1,800 patients use medical services annually. A significant proportion of patients are diagnosed at the cirrhotic stage and not treated with Cu-chelating therapeutics, suggesting the need for early diagnosis and adequate treatment to improve prognosis.