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遗传代谢性肝病的临床特征及诊断思路
Clinical features and diagnosis of inherited metabolic liver disease
文章发布日期:2019年07月05日  来源:  作者:彭姗姗,杨永峰  点击次数:244次  下载次数:100次

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【摘要】:遗传代谢性肝病病因复杂,种类多样,临床表现无特异性,诊断困难,容易漏诊、误诊,需结合患者症状、体征、实验室检查、影像学检查、肝穿刺病理、基因检测等做出正确的临床诊断,为早期治疗提供依据。因此,从临床中发现线索对于诊断该病有着重要的作用,现对遗传代谢性肝病的临床线索及临床诊断思路进行总结。
【Abstract】:Inherited metabolic liver disease has complex etiologies and various types, and its clinical manifestations lack specificity, which may lead to missed diagnosis and misdiagnosis. A clinical diagnosis should be given based on symptoms, signs, laboratory examination, imaging findings, liver biopsy, and gene detection, in order to provide a basis for early treatment. Therefore, clues from clinical examination play an important role in the diagnosis of this disease. This article summarizes the clinical clues and diagnostic ideas of inherited metabolic liver disease.
【关键字】:遗传代谢性肝病; 体征和症状; 诊断
【Key words】:metabolic liver disease; signs and symptoms; diagnosis
【引证本文】:PENG SS, YANG YF. Clinical features and diagnosis of inherited metabolic liver disease[J]. J Clin Hepatol, 2019, 35(8): 1663-1666. (in Chinese)
彭姗姗, 杨永峰. 遗传代谢性肝病的临床特征及诊断思路[J]. 临床肝胆病杂志, 2019, 35(8): 1663-1666.

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