摘要
目的分析总结25例Gilbert综合征临床、实验室检查和病理学形态,为临床病理诊断提供一定经验。方法收集2017年-2022年新疆医科大学第一附属医院Gilbert综合征25例,回顾分析Gilbert综合征的临床特征、实验室检查及病理学形态。结果(1)一般特征:男性16例,女性9例,年龄14岁-63岁,平均年龄40.1岁;(2)临床表现:25例患者中,12例以幼年开始反复出现皮肤黄染,6例偶尔出现乏力;(3)实验室检查:25例患者病毒血清学及自身免疫抗体均为阴性。血红蛋白[141.56±14.27 g/L]和网织红细胞计数[45.37±15.37109/L]均正常,抗人球蛋白溶血实验均为阴性。25例患者均有非结合胆红素(IBil)升高[49.49±31.08μmoL/L],碱性磷酸酶(ALP)有1例升高[69.87±58.05 U/L],结合胆红素(DBil)[1.60±1.70μmoL/L]、门冬氨酸氨基转移酶(AST)[24.84±7.29 U/L]、丙氨酸氨基转移酶(ALT)[26.07±7.44 U/L]和γ-谷氨酰转肽酶(γ-GGT)[24.32±13.41 U/L]均正常。21例患者利福平实验阳性;(4)影像学检查:B超、CT肝脾均未显示异常;(5)肝组织活检:25例组织病理学均显示肝小叶基本结构尚好,在肝小叶3区细胞内出现细小棕色颗粒,余无特殊改变。结论Gilbert综合征以非结合胆红素升高为特征,病理学以肝小叶3区细胞内出现细小棕色颗粒为特征,利福平实验多数为阳性。若临床表现、病理特征及实验室检查均符合条件可符合GS诊断,基因检测可确诊。
Objective To analyze and summarize the clinical,laboratory examination and pathological patterns of 25 cases of Gilbert’s syndrome,and to provide certain experience for clinical pathological diagnosis.Methods 25 cases of Gilbert syndrome clearly diagnosed in the Department of Pathology of the First Affiliated Hospital of Xinjiang Medical University from 2017 to 2022 were collected,and the clinical characteristic,laboratory examinations and pathological patterns of Gilbert syndrome were analyzed retrospectively.Results(1)General characteristics:16 cases were male and 9 cases were female,with ages ranging from 14 to 63 years old,and the average age was 40.1 years old.(2)Clinical manifestations:Of the 25 patients,12 cases had recurrent yellowing of the skin starting at an early age,and 6 cases had occasional malaise.(3)Laboratory tests:25 patients were negative for viral serology and autoimmune antibodies.Hemoglobin[141.56±14.27 g/L]and reticulocyte count[45.37±15.37109/L]were normal,and anti-human globulin hemolysis test was negative.25 patients had elevated unconjugated bilirubin(IBil)[49.49±31.08μmoL/L],alkaline phosphatase(ALP)was elevated in one case[69.87±58.05 U/L].Conjugated bilirubin(DBil)[1.60±1.70μmoL/L],mentholamine aminotransferase(AST)[24.84±7.29 U/L],alanine aminotransferase(ALT)[26.07±7.44 U/L],and gamma-glutamyltransferase(γ-GGT)[24.32±13.41 U/L]were normal.Rifampicin test was positive in 21 patients.(4)Imaging examination:ultrasound,CT liver and spleen did not show any abnormality.(5)Liver tissue biopsy:histopathology of 25 cases showed that the basic structure of the liver lobules was still good,with fine brown particles in the cells of the three regions of the liver lobules,and no special changes in the rest.Conclusions Gilbert’s syndrome is characterized by elevated unconjugated bilirubin,and pathology is characterized by the presence of fine brown granules in the cells of liver lobule zone 3,with a majority of positive rifampicin tests.The diagnosis of GS can be fulfilled if the clinical manifestations,pathologic features and laboratory tests are eligible,and genetic testing can confirm the diagnosis.
作者
桑伟
柯比努尔·吐尔逊
马倩
楚慧
刘铭
张巍
SANG Wei;Kebinuer Tuerxun;MA Qian;CHU Hui;LIU Ming;ZHANG Wei(State key laboratory of pathogenesis,prevention and treatment of high incidence diseases in central Asia.Department of pathology,the first affiliated hospital of Xinjiang medical university,Urumqi,830054,China;State key laboratory of pathogenesis,prevention and treatment of high incidence diseases in central Asia.Three department of infection,the first affiliated hospital of Xinjiang medical university,Urumqi,830054,China)
出处
《新疆医学》
2024年第3期259-262,共4页
Xinjiang Medical Journal
基金
省部共建中亚高发病成因与防治国家重点实验室资助项目(项目编号:SKL-HIDCA-2020-JZ1,SKL-HIDCA-2022-33)
作者简介
桑伟,女,博士,副主任医师,研究方向:消化系统和中枢神经系统疾病;通信作者:张巍,女,博士,主任医师,研究方向:消化系统、乳腺系统和中枢神经系统疾病。E-mail:zwyhr100@163.com。
