摘要
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岁的患儿经多次的生化学、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：OGilbert综合征？②Crigler-Najjar综合征（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。
Objectives To investigate the pathogenesis and clinical features of hereditary hyperbilirubinemia. Methods A case of hereditary hyperbilirubinemia was reported and relevant knowledge was reviewed. Results By the means of repeated biochemistry, hematology, imaging, histological examination, a 13-year-old boy was diagnosed as Phenobarbital hereditary hyperbilirubinemia： Gilbert＇s Syndrome or Crigler-Najjar Syndrome II. To further clarify the diagnosis, a diagnostic treatment with Oral Phenobarbital was performed in this patient. Conclusions Hereditary hyperbilirubinemia rarely occurred in clinical practice. Details in patient＇s history and his family history should be acquired and fully analysis of the clinical features and laboratory examination need to be performed before the diagnosis is made. Diagnostic treatment, with Phenobarbital could be helpful as diagnostic tool. Furthermore, genetic testing can further clarify the diagnosis.
出处
《公共卫生与临床医学》
2010年第2期122-124,共3页
Public health and dinical medicine
