间接胆红素血症的罕见表现：多种基因变异共存
A Rare Presentation of Indirect Hyperbilirubinemia: Coexistence of Multiple Gene Variants.
作者信息
Tran Phi, Grimbergen Andrea, Lewis Megan, Yi Ruiyang, Williams Christopher
机构信息
Department of Internal Medicine, Baylor Scott and White Medical Center, Temple, TX.
Division of Gastroenterology, Baylor Scott and White Medical Center, Temple, TX.
出版信息
ACG Case Rep J. 2024 Jul 17;11(7):e01436. doi: 10.14309/crj.0000000000001436. eCollection 2024 Jul.
Abstract
Indirect hyperbilirubinemia is a common clinical finding and rarely can be attributed to Crigler-Najjar syndrome type 2 or Gilbert syndrome. This case displays a rare presentation of indirect hyperbilirubinemia in a patient with multiple gene variants. We aim to discuss the complexity of multiple gene variants and its effect on the degree of observed hyperbilirubinemia.
摘要
间接胆红素血症是一种常见的临床症状，很少可归因于2型克里格勒-纳贾尔综合征或吉尔伯特综合征。该病例展示了一名具有多种基因变异的患者出现间接胆红素血症的罕见表现。我们旨在探讨多种基因变异的复杂性及其对观察到的胆红素血症程度的影响。
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本文引用的文献
1
Compound heterozygous UGT1A1*28 and UGT1A1*6 or single homozygous UGT1A1*28 are major genotypes associated with Gilbert's syndrome in Chinese Han people.
Gene. 2021 May 20;781:145526. doi: 10.1016/j.gene.2021.145526. Epub 2021 Feb 23.
2
(TA) Promoter Genotype: Diagnostic and Population Pharmacogenetic Marker in Serbia.
Balkan J Med Genet. 2018 Oct 29;21(1):59-68. doi: 10.2478/bjmg-2018-0012. eCollection 2018 Jun.
3
Crigler-Najjar Syndrome: Current Perspectives and the Application of Clinical Genetics.
Endocr Metab Immune Disord Drug Targets. 2018;18(3):201-211. doi: 10.2174/1871530318666171213153130.
4
Differences in UGT1A1 gene mutations and pathological liver changes between Chinese patients with Gilbert syndrome and Crigler-Najjar syndrome type II.
Medicine (Baltimore). 2017 Nov;96(45):e8620. doi: 10.1097/MD.0000000000008620.
5
Two Different UGT1A1 Mutations causing Crigler-Najjar Syndrome types I and II in an Iranian Family.
J Gastrointestin Liver Dis. 2015 Dec;24(4):523-6. doi: 10.15403/jgld.2014.1121.244.ugt.
6
Genotype of UGT1A1 and phenotype correlation between Crigler-Najjar syndrome type II and Gilbert syndrome.
J Gastroenterol Hepatol. 2016 Feb;31(2):403-8. doi: 10.1111/jgh.13071.
7
Polymorphisms of UGT1A1*6, UGT1A1*27 & UGT1A1*28 in three major ethnic groups from Malaysia.
Indian J Med Res. 2012 Aug;136(2):249-59.
8
Assessment of UGT polymorphisms and neonatal jaundice.
Semin Perinatol. 2011 Jun;35(3):127-33. doi: 10.1053/j.semperi.2011.02.006.
9
Polymorphism of UDP-glucuronosyltransferase and drug metabolism.
Curr Drug Metab. 2005 Apr;6(2):91-9. doi: 10.2174/1389200053586064.
10
[Gilbert disease and type I and II Crigler-Najjar syndrome due to mutations in the same UGT1A1 gene locus].
Med Klin (Munich). 2002 Sep 15;97(9):528-32. doi: 10.1007/s00063-002-1180-6.
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