成人遗传性球型红细胞增多症诱发重度高胆红素血症1例报告

Severe hyperbilirubinemia induced by hereditary spherocytosis:A case report

遗传性球型红细胞增多症是一种人体红细胞膜缺陷遗传性溶血疾病,主要以贫血、黄疸、脾大为主要症状,因临床症状不典型,容易误诊漏诊,目前临床上总胆红素及直接胆红素极高病例较少见,国内外很少有报道,文本患者入院接受治疗时总胆红素高达1686.01μmol/L,直接胆红素高达1166.6μmol/L。经外科治疗该患者顺利出院,术后随访一般情况佳,生活质量高,本文总结了外科治疗遗传性球型红细胞增多症的相关诊疗经验。

Hereditary spherocytosis is a type of hereditary hemolytic disease with human erythrocyte membrane defects and has the main symptoms of anemia,jaundice,and splenomegaly.Since its clinical symptoms are not typical,misdiagnosis or missed diagnosis is often observed.At present,there are rare cases with extremely high levels of total bilirubin and direct bilirubin in clinical practice,with few reports in China and globally.In this study,the patient had a total bilirubin level of 1686.01μmol/L and a direct bilirubin level of 1166.6μmol/L on admission.The patient was successfully discharged after surgical treatment and had good general conditions and high quality of life during follow-up.This article summarizes the experience in the diagnosis and surgical treatment of hereditary spherocytosis.