摘要
肝豆状核变性是一少见而可治疗的遗传性疾病,介绍本病最新进展和作者多年的经验,讨论当前我国这一疾病临床中值得注意的问题.大量研究表明,近年本病病例增多,年龄范围更广,肝型及不典型病例更多,诊断难度大,误诊误治常见,值得重视.高度警惕是防止误诊的关键,实验检查是诊断本病不可缺少的依据.K-F环、铜蓝蛋白、尿铜、肝铜、基因检查等对本病的诊断均有重要意义.其中肝铜的特异性和敏感性最高,达95%;基因检查特异性100%,敏感性60%~85%.怀疑本病的患者应进行系统铜代谢检查.严格掌握诊断标准,积分≥4可诊断本病,切勿凭某项指标诊断本病.不论病情轻重,确诊后即开始治疗.危重患者不要因为药物副作用放弃治疗,暴发型应尽快进行快速驱铜治疗,治疗无效的急慢性肝衰竭患者可行肝移植.本病长期预后良好.要认识本病新的特点,更新观念,提高我国肝豆状核变性诊治的临床水平.
Wilson disease （WD） is a rare and treatable genetic disease that is found worldwide. The latest progress and author＇s experience in this field are described, and some notable clinical issues concerning this disease in China are discussed. Many studies have shown that in recent years, the number and age range of WD cases have increased, and more and more liver - type and atypical cases have been identi- fied ; WD is difficult to diagnose, and misdiagnosed cases are commonly seen. Heightened alertness is the key to the prevention of misdiagno- sis, and laboratory testing is an indispensible basis for diagnosis of this disease. Kayser - Fleischer ring, ceruloplasmin, urinary copper, he- patic copper, and genetic testing are of great significance for the diagnosis of WD. Hepatic copper has the highest specificity and sensitivity for WD, reaching 95% , and genetic testing has a specificity of 100% and a sensitivity of 60% -85% for WD. Patients suspected of WD should undergo systemic copper metabolic examination. Diagnostic criteria should be strictly followed, and WD can be diagnosed if the total score is not lower than 4 ; diagnosis cannot be based on a single test. Once the diagnosis is confirmed, therapy is started regardless of the se- verity of disease. Severe cases are not encouraged to discontinue therapy due to the side effects of drugs. Fulminating cases should receive rapid decopper treatment as soon as possible. Liver transplantation may be considered for patients with acute or chronic liver failure unre- sponsive to medical therapy. Overall, patients who receive adequate care for WD have a good long -term prognosis. We need to recognize the new characteristics of this disease and improve the diagnosis and treatment of WD in China.
出处
《临床肝胆病杂志》
CAS
2013年第12期905-908,共4页
Journal of Clinical Hepatology
关键词
肝豆状核变性
hepatolen ticular degeneration
