Chilakala Akhila, Davis Brenton G, Goldman Max, Mukhtar Nizar A
Kaiser Permanente San Francisco, San Francisco, CA.
ACG Case Rep J. 2025 Jun 20;12(6):e01741. doi: 10.14309/crj.0000000000001741. eCollection 2025 Jun.
Unconjugated hyperbilirubinemia arises from elevated bilirubin production, impaired hepatic uptake, or reduced bilirubin conjugation, the latter often attributed to hereditary factors such as Gilbert syndrome involving mutations in the diphosphoglucuronate-glucuronosyltransferase 1A1 gene. Bilirubin levels in Gilbert syndrome typically range from 1.2 to 3.0 mg/dL, occasionally peaking up to 5.0 mg/dL. This case report details a jaundiced 24-year-old man with no significant medical history but otherwise asymptomatic presenting with indirect hyperbilirubinemia markedly elevated to 10.3 mg/dL.
非结合性高胆红素血症源于胆红素生成增加、肝脏摄取受损或胆红素结合减少，后者通常归因于遗传因素，如吉尔伯特综合征，涉及二磷酸葡萄糖醛酸 - 葡萄糖醛酸基转移酶1A1基因的突变。吉尔伯特综合征患者的胆红素水平通常在1.2至3.0mg/dL之间，偶尔可高达5.0mg/dL。本病例报告详细介绍了一名24岁的黄疸男性，他没有重大病史，除黄疸外无症状，间接胆红素水平显著升高至10.3mg/dL。
