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目的探讨肝豆状核变性的临床表现与早期诊断,旨在提高临床医生对本病的认识,减少误诊。方法回顾性分析86例肝豆状变性患者的临床表现、实验室及特殊检查及首次误诊情况。结果86例患者中,神经、精神异常者44例,肝炎、肝硬化36例,关节痛5例。K-F环阳性占94.29%,血清铜蓝蛋白降低占91.80%,血尿酸降低占67.27%。头颅CT或MRI异常占85.41%。常被误诊为肝炎、肝硬化、肾炎、精神疾患、关节炎、微量元素缺乏、类风湿、癫痫等,误诊率达52.33%。结论肝豆状核变性多见于青少年,神经系统及肝损害为主要临床表现,常伴有肾脏损害,K-F角膜环是重要阳性体征,头颅CT或MRI可作为辅助诊断手段,本病易被误诊误治,早期诊断和及时治疗对预后至关重要,对具有上述易被误诊疾病症者,应及早通过角膜K-F环及铜代谢等检查予以确诊。
Objective To investigate the clinical manifestations and early diagnosis of hepatolenticular degeneration, aimed at improving clinicians’ understanding of the disease and reducing misdiagnosis. Methods Retrospective analysis of 86 cases of liver degeneration patients with clinical manifestations, laboratory and special examination and the first misdiagnosis. Results Among the 86 patients, 44 were diagnosed as having neurological and psychiatric disorders, 36 with hepatitis, cirrhosis and 5 with arthralgia. K-F loop positive accounted for 94.29%, serum ceruloplasmin decreased 91.80%, decreased blood uric acid accounted for 67.27%. Head CT or MRI abnormalities accounted for 85.41%. Often misdiagnosed as hepatitis, cirrhosis, nephritis, mental illness, arthritis, trace element deficiency, rheumatoid, epilepsy, misdiagnosis rate of 52.33%. Conclusion Hepatolenticular degeneration is more common in adolescents, nervous system and liver damage as the main clinical manifestations, often accompanied by renal damage, KF corneal ring is an important positive signs, head CT or MRI can be used as a diagnostic tool, the disease is easily misdiagnosed Governance, early diagnosis and timely treatment of the prognosis is crucial, with the above-mentioned easily misdiagnosed disease, should be early through corneal KF ring and copper metabolism and other tests be diagnosed.