肝脏遗传性疾病的实验室诊断进展。
An update on laboratory diagnosis of liver inherited diseases.
机构信息
Dipartimento di Bioscienze e Territorio, Università del Molise, Isernia, Italy.
出版信息
Biomed Res Int. 2013;2013:697940. doi: 10.1155/2013/697940. Epub 2013 Oct 8.
Abstract
Liver inherited diseases are a group of genetically determined clinical entities that appear with an early chronic liver involvement. They include Wilson's disease (hepatolenticular degeneration), hereditary hemochromatosis, and alpha-1-antitrypsin deficiency. In addition, cystic fibrosis, although it is not specifically a liver disease, may cause a severe liver involvement in a significant percentage of cases. For all these pathologies, the disease gene is known, and molecular analysis may contribute to the unequivocal diagnosis. This approach could avoid the patient invasive procedures and limit complications associated with a delay in diagnosis. We review liver inherited diseases on the basis of the genetic defect, focusing on the contribution of molecular analysis in the multistep diagnostic workup.
摘要
遗传性肝脏疾病是一组具有遗传决定特征的临床病症，通常表现为慢性肝脏疾病的早期受累。这些疾病包括 Wilson 病（肝豆状核变性）、遗传性血色病和α1-抗胰蛋白酶缺乏症。此外，虽然囊性纤维化不是一种特定的肝脏疾病，但它可能导致很大一部分病例出现严重的肝脏受累。对于所有这些病理情况，疾病基因是已知的，分子分析可能有助于明确诊断。这种方法可以避免患者进行有创性检查，并减少因诊断延误而导致的并发症。我们根据遗传缺陷对遗传性肝脏疾病进行了综述，重点介绍了分子分析在多步骤诊断中的作用。
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