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Wilson病(WD)是一种铜代谢异常,其临床表现为变异很大的遗传性疾病。诊断往往基于能见到角膜色素环和血浆铜蓝蛋白水平<20mg/dl。如果缺乏典型的临床症状,诊断就很困难。分析了55例WD患者确诊时的各项临床和实验室资料,至少存在两种典型的临床表现(裂除灯检查发现有角膜色素环;典型的神经系症状;低的血浆铜蓝蛋白水平)。对缺乏角膜色素环并具有正常血铜蓝蛋白水平的患者的诊
Wilson’s disease (WD) is a copper metabolism disorder whose clinical manifestations are hereditary diseases that vary greatly. Diagnosis is often based on the ability to see corneal pigment ring and ceruloplasmin levels <20mg / dl. Without typical clinical symptoms, diagnosis is difficult. The clinical and laboratory data of 55 patients with WD were analyzed. There were at least two typical clinical manifestations (corneal pigment ring found in the examination of split lamp; typical neurological symptoms; low level of ceruloplasmin) . Diagnosis of patients who lack corneal pigment rings and have normal levels of ceruloplasmin