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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