A Rare Presentation of Indirect Hyperbilirubinemia: Coexistence of Multiple UGT1A1 Gene Variants

被引：0

作者：

Tran, Phi ^{[1
]}

Grimbergen, Andrea ^{[1
]}

Lewis, Megan ^{[2
,3
]}

Yi, Ruiyang ^{[4
]}

Williams, Christopher ^{[2
,3
]}

机构：

[1] Baylor Scott & White Med Ctr, Dept Internal Med, Temple, TX 76508 USA

[2] Baylor Scott & White Med Ctr, Div Gastroenterol, Temple, TX USA

[3] Baylor Coll Med, Temple, TX USA

[4] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX USA

来源：

ACG CASE REPORTS JOURNAL | 2024年 / 11卷 / 07期

关键词：

Crigler-Najjar; Gilbert Syndrome; genetics; hyperbilirubinemia; CRIGLER-NAJJAR-SYNDROME; MUTATIONS; GILBERT; POLYMORPHISMS;

D O I：

暂无

中图分类号：

R57 [消化系及腹部疾病];

学科分类号：

摘要：

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 UGT1A1 gene variants. We aim to discuss the complexity of multiple UGT1A1 gene variants and its effect on the degree of observed hyperbilirubinemia.

引用

页数：3

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