遗传性高胆红素血症1例报道并文献回顾

Hereditary hyperbilirubinemia： a case report with literature review

目的探讨遗传性高胆红素血症的发病机制及临床特点。方法本文报告了一例较为罕见的遗传性高胆红素血症的病例，并进行了相关的文献复习。结果本例13岁的患几经多次的生化学、血液学、影像学、组织学检查，并进行苯巴比妥的诊断性治疗有效，提示该患儿为遗传性高胆红素血症：1．Gilbert综合症？2．Crigler-Najjar综合症（Ⅱ型）？结论遗传性高胆红素血症在临床上较为罕见，需要对患者的病史、家族史、临床特征及实验室检查做仔细分析，并可结合诊断性治疗，如苯巴比妥等进行诊断，早期治疗对患者的预后有一定的帮助，基因检测可进一步明确诊断。

Objective To investigate the pathogenesis and clinical feature of hereditary hyperbilirubinemia. Methods A case of hereditary hyperbilirubinemia was reported and relevant knowledge was reviewed. Results By means of repeated biochemistry, hematology, imaging, histological examination, a 13-year-old boy was diagnosed of Phenobarbital hereditary hyperbilirubinemia： Gilbert＇s Syndrome or Crigler-Najjar Syndrome Ⅱ. We also made the suspected diagnosis by diagnostic treatment with Oral Phenobarbital. Conclusions Hereditary hyperbilirubinemia is more rare in clinical practice. We should ask in detail about patient＇s history and his family history, and analyze the clinical features and laboratory examination before we made diagnosis. Diagnostic treatment, such as Phenobarbital may be useful. Early therapy can improve the prognosis. Furthermore, genetic testing is helpful to definite the diagnosis.