中国全科医学2013，Vol.16Issue(5)：528-531,4.DOI:10.3969/j.issn.1007-9572.2013.02.054
肝豆状核变性临床特点分析
Clinical Features of Hepatolenticular Degeneration
摘要
Abstract
Objective To analyze the clinical features of hepatolenticular degeneration ( HID ) to improve clinical physicians'awareness of the disease and reduce its misdiagnoses. Methods A retrospective analysis was performed on the clinical data ( including courses of disease, first symptom, concomitant symptom, laboratory tests and imaging studies ) of 44 patients with HLD as first symptom admitted from February 2005 to April 2010. Results The mean age of first attack was ( 15. 4 ±12.4) years old, average course of disease 18. 4 months. Liverish type accounted for 70% (31/44), nervous for 18% (8/ 44 ), the others for 11% ( 5/44 ). Positive rate of corneal K - F ring was 91% ( 20/22 ), abnormal rates of ceruloplasmin and urinary copper 93% (40/43), 85% (23/27), respectively. The indicators of liver function and coagulation were abnormal at varying degrees. Abdominal ultrasound and cranial MRI suggested damages of liver function and brain. The misdiagnosis rate was 66% (29/44). Conclusion Patients suspicious of HLD should undergo timely K - F ring, serum ceruloplasmin, abdominal ultrasound, cranial MRI and other tests, to achieve the purpose of early diagnosis and treatment to reduce its misdiagnosis and improve patients'prognoses.关键词
肝豆状核变性/诊断/K-F环/铜蓝蛋白/误诊Key words
Hepatolenticular degeneration/ Diagnosis/ K - F ring/ Ceruloplasmin/ Diagnostic errors分类
医药卫生引用本文复制引用
王东旭,林连捷,郑长青,林艳,曹男,丁楠楠,金一鸣..肝豆状核变性临床特点分析[J].中国全科医学,2013,16(5):528-531,4.基金项目
辽宁省科学技术基金资助项目(2010225008) （2010225008）
辽宁省博士科研启动基金资助项目(20081048) （20081048）
沈阳市科学技术基金资助项目(F10-205-1-7) （F10-205-1-7）
