Assessment of UGT Polymorphisms and Neonatal Jaundice

被引：26

作者：

Bartlett, Mark G. ^{[1
]}

Gourley, Glenn R. ^{[1
]}

机构：

[1] Univ Minnesota, Minneapolis, MN USA

来源：

SEMINARS IN PERINATOLOGY | 2011年 / 35卷 / 03期

关键词：

bilirubin; neonatal jaundice; UGT polymorphisms; Gilbert's syndrome; Crigler-Najjar syndrome; CRIGLER-NAJJAR-SYNDROME; ORTHOTOPIC LIVER-TRANSPLANTATION; SYNDROME TYPE-I; URIDINE-DIPHOSPHATE-GLUCURONOSYLTRANSFERASE; BILIRUBIN UDP-GLUCURONOSYLTRANSFERASE; FAMILIAL NONHEMOLYTIC JAUNDICE; HETEROZYGOUS BETA-THALASSEMIA; HYPERTROPHIC PYLORIC-STENOSIS; INHERITED GILBERTS-SYNDROME; NICOTINIC-ACID TEST;

D O I：

10.1053/j.semperi.2011.02.006

中图分类号：

R71 [妇产科学];

学科分类号：

100211 ;

摘要：

Elevation of the serum bilirubin level is a common, if not universal, finding during the first week of life. This can be a transient phenomenon that resolves spontaneously or can signify a serious or even life-threatening condition. There are many causes of hyperbilirubinemia and related therapeutic and prognostic implications. The diseases in which there is a primary disorder of the metabolism of bilirubin will be reviewed regarding their clinical presentation, pathophysiology, diagnosis, and treatment. These disorders-Gilbert's syndrome and Crigler-Najjar Syndrome-both involve abnormalities in bilirubin conjugation secondary to deficiency of bilirubin uridine diphosphate glucuronosyltransferase. The purpose of this article is to review the current understanding of the genetic polymorphisms that result in these diseases and discuss recent advances in diagnosis and treatment. © 2011 Elsevier Inc.

引用

页码：127 / 133

页数：7

共 136 条

[1] SERUM BILIRUBIN FRACTIONS IN HEALTHY-SUBJECTS AND PATIENTS WITH UNCONJUGATED HYPERBILIRUBINEMIA [J].