Inherited disorders of bilirubin clearance.
Inherited disorders of bilirubin clearance.
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DOI：
10.1038/pr.2015.247
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发表时间：
2016-03
影响因子：
3.6
通讯作者：
Aleksunes LM
中科院分区：
文献类型：
--
作者：
Memon N;Weinberger BI;Hegyi T;Aleksunes LM
高胆红素血症的遗传性疾病可能是由胆红素生成增加或胆红素清除减少引起的。肝脏胆红素清除减少的原因可能是1)非结合胆红素摄取和肝内储存，2)葡萄糖酸与胆红素结合(例如Gilbert综合征、Crigler-Najjar综合征、Lucey-Driscoll综合征、母乳黄疸)，3)胆红素排泄到胆汁中(杜宾-约翰逊综合征)，或4)结合胆红素重新摄取(转子综合征)。在这篇综述中，描述了这些疾病的分子机制和临床表现，以及目前的诊断和治疗方法。
Inherited disorders of hyperbilirubinemia may be caused by increased bilirubin production or decreased bilirubin clearance. Reduced hepatic bilirubin clearance can be due to defective 1) unconjugated bilirubin uptake and intrahepatic storage, 2) conjugation of glucuronic acid to bilirubin (e.g. Gilbert syndrome, Crigler-Najjar syndrome, Lucey-Driscoll syndrome, breast milk jaundice), 3) bilirubin excretion into bile (Dubin-Johnson syndrome), or 4) conjugated bilirubin re-uptake (Rotor syndrome). In this review, the molecular mechanisms and clinical manifestations of these conditions are described, as well as current approaches to diagnosis and therapy.