36例Gilbert综合征临床特征分析

Analysis of clinical characteristics of 36 patients with Gilbert syndrome

目的通过对Gilbert综合征临床病例进行回顾性分析,以提高对该病的诊疗水平。方法回顾性分析华中科技大学同济医学院附属同济医院Gilbert综合征患者的临床资料,包括辅助检查、肝穿病理检查、基因检测结果。结果男性患者明显多于女性(86%vs 14%),患者行饥饿试验后总胆红素(TBIL)、间接胆红素(IBIL)明显升高[TBIL:(39.77±17.88)μmol/L vs(88.97±36.14)μmol/L,P<0.001;IBIL:(30.32±17.47)μmol/L vs(80.61±33.76)μmol/L,P<0.001],行鲁米那诊断性治疗试验后TBIL、IBIL明显降低[TBIL:(107.81±28.24)μmol/L vs(36.67±13.47)μmol/L,P<0.001;IBIL:(99.44±27.67)μmol/L vs(28.20±13.89)μmol/L,P<0.001],基因测序结果为UGT1A1基因启动子碱基序列插入突变和UGT1A1基因第1号外显子突变,患者肝穿刺病理检查多正常或呈慢性炎症改变。结论 Gilbert综合征以慢性间断性IBIL升高为主要特征,进行鲁米那试验、饥饿试验、病理检查可协助诊断,行基因测序可确诊,大部分患者无需特殊治疗,预后良好。

Objective To improve the diagnosis and treatment of Gilbert syndrome by retrospective analysis. Methods Clinical data of patients with Gilbert syndrome in the Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology were retrospectively analyzed, and the results of gene sequencing were analyzed. Results The number of male patients was significantly larger than female patients （86% vs 14% ）. Total bilirubin （TBIL） and indirect bilirubin （IBIL） of most patients were significantly increased after starvation test [ TBIL： （39.77 ±17.88） μmol/Lvs （88.97 ±36. 14） μmol/L, P 〈0.001; IBIL： （30.32±17.47）μmol/L vs （80.61±33.76） μmol/L, P 〈 0. 001 ] , TBIL and IBIL of most patients were significantly decreased [ TBIL ： （ 107.81 ± 28.24）μmol/L vs （36.67 ± 13.47）μmol/L, P 〈0.001 ; IBIL： （99.44 ±27.67） μmol/L vs （28.20 ±13.89）μmol/L, P 〈0.001 after phenobarbital treatment. UGT1A1 gene promoter sequence insertion mutation and UGT1A1 gene mutation in exon 1 were found in gene sequencing. Normal or chronic inflammation were observed in liver biopsy pathological examination. Conclusion Gilbert syndrome mainly manifested as chronic and intermittent IBIL increase. Luminal test, starvation test and pathological examination are helpful in diagnosis, gene sequencing can diagnose the disease. Most patients have good prognosis without special treatment.