Advances in research on the clinical phenotype and genetic etiology of jaundice associated with Hereditary bilirubin metabolic disorders
马贝贝 1吴庆华 2李岭
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作者信息
1. 1濮阳市人民医院产科，濮阳 457005
2. 2郑州大学第一附属医院遗传与产前诊断中心，郑州 450052
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摘要
遗传性胆红素代谢障碍性疾病是导致黄疸的重要原因，其种类多样且临床表现相似，较难明确病因。近年来二代测序技术的应用揭示了越来越多与黄疸发生有关的遗传学病因。本文就胆红素代谢障碍性黄疸的临床表型和遗传学病因进行综述，以加强对于这类疾病的认识，扩展临床诊疗思路，同时为这类疾病患者及家系的遗传咨询和产前诊断提供参考。 Hereditary bilirubin metabolic disorder is an important cause for jaundice. For its diverse types and similar clinical manifestations, it has been difficult to make a clear etiological diagnosis. The application of next generation sequencing in recent years has delineated the more and more genetic etiologies for jaundice. This article has reviewed the clinical manifestations and genetic etiology of bilirubin metabolic disorder jaundice, with an aim to enhance the understanding of such diseases and facilitate their clinical diagnosis and treatment, which will provide a reference for genetic counseling and/or prenatal diagnosis for the affected individuals and families.
Abstract
Hereditary bilirubin metabolic disorder is an important cause for jaundice. For its diverse types and similar clinical manifestations, it has been difficult to make a clear etiological diagnosis. The application of next generation sequencing in recent years has delineated the more and more genetic etiologies for jaundice. This article has reviewed the clinical manifestations and genetic etiology of bilirubin metabolic disorder jaundice, with an aim to enhance the understanding of such diseases and facilitate their clinical diagnosis and treatment, which will provide a reference for genetic counseling and/or prenatal diagnosis for the affected individuals and families.
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