Dubin-Johnson综合征临床及病理特征
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摘要
目的探讨Dubin-Johnson综合征(DJS)的临床及病理特点。方法分析解放军第三○二医院2006年1月至2016年4月收治的21例DJS患者的临床资料,回顾性分析患者的临床及病理资料。结果男17例,女4例,平均年龄(28.7±8.1)岁,平均TBil(59.2±11.1)μmol/L;平均DBil(40.9±9.3)μmol/L,肝穿病理组织肉眼可见呈黑色、灰褐色、黄绿色、灰黑色等黑肝表现。光镜下主要病理改变:肝细胞内大量较粗大的深棕色颗粒沉积,以中央静脉周围为著,少数肝细胞水样变性,窦周炎不明显,汇管区无或轻度扩大,少量炎细胞浸润,未见明确界面炎。结论 DJS多发于男性,以青少年期发病为主,升高以DBil升高为主,肝穿病理检查为确诊DJS主要手段,黑肝表现及镜下深棕色颗粒沉积为其特异性病理特征。
Objective To investigate the clinical and pathological features of Dubin-Johnson syndrome(DJS) in 21 cases.Methods Clinical data of 21 inpatients diagnosed of DJS from January 2006 to April 2016 was collected and retrospectively analyzed.Results There were 17 male patients and 4 female patients enrolled with average age of 28.7±8.1-year old.The average levels of total bilirubin(TBil)and direct bilirubin were 59.2±11.1 mol/L and 40.9±9.3 mol/L,respectively.Macroscopic observation shown liver tissues with pathognomonic black including gray-brown,yellow-green and gray-black.Microscopically,there were a large number of dark brown coarse granules depositing in the hepatocytes,especially around the central veins.A few of hydropic degeneration of hepatocytes was detected with little perisinuitis.There was no or slight enlargement in the portal areas with little inflammatory cells infiltration.Conclusion DJS occurs mainly in men during the phase of adolescence.Total bilirubin is increased in DJS,especially the direct bilirubin.Liver biopsy is the golden index for diagnosis of DJS,which is shown as grossly dark liver specimen and microscopically numerous brownish pigment deposits in hepatocytes.
Objective To investigate the clinical and pathological features of Dubin-Johnson syndrome(DJS) in 21 cases.Methods Clinical data of 21 inpatients diagnosed of DJS from January 2006 to April 2016 was collected and retrospectively analyzed.Results There were 17 male patients and 4 female patients enrolled with average age of 28.7±8.1-year old.The average levels of total bilirubin(TBil)and direct bilirubin were 59.2±11.1 mol/L and 40.9±9.3 mol/L,respectively.Macroscopic observation shown liver tissues with pathognomonic black including gray-brown,yellow-green and gray-black.Microscopically,there were a large number of dark brown coarse granules depositing in the hepatocytes,especially around the central veins.A few of hydropic degeneration of hepatocytes was detected with little perisinuitis.There was no or slight enlargement in the portal areas with little inflammatory cells infiltration.Conclusion DJS occurs mainly in men during the phase of adolescence.Total bilirubin is increased in DJS,especially the direct bilirubin.Liver biopsy is the golden index for diagnosis of DJS,which is shown as grossly dark liver specimen and microscopically numerous brownish pigment deposits in hepatocytes.
引文
[1]Paulusma CC,Kool M,Bosma PJ,et al.A mutation in the human canalicular multispecific organic anion transporter gene causes theDubin-Johnson syndrome.Hepatology,1997,25:1539-1542.
[2]Wada M,Toh S,Taniguchi K,et al.Mutations in the canalicularmultispecific organic anion transporter(cMOAT)gene,a novel ABC transporter in patients with hyperbilirubinemiaⅡ/Dubin Johnson syndrome.Human Molecular Genetics,1998,7:203-207.
[3]Kartenbeck J,Leuschner U,Mayer R,et al.Absence of the canalicu-lar isoform of the MRP gene-encoded conjugate export pump fromthe hepatocytes in Dubin-Johnson syndrome.Hepatology,1996,23:1061-1066.
[4]Materna V,Lage H.Homozygous mutation Arg(768)Trp in the ABC-transporter encoding geneMRP2/[MOAT/ABCC2 causes Dubin-Johnson syndrome in a Caucasian patient.J Hum Genet,2003,48:484-486.
[5]王怡,赵桂鸣,李响,等.Dubin-Johnson综合征一家系.中华医学遗传学杂志,2007,24:655.
[6]向理科,罗子国,李圆圆,等.Dubin-Johnson综合征的病理学特征.中华肝脏病杂志,2000,8,45-47.
[7]陈明霞,赵文学,杨少毅.Dubin-Johnson综合征的肝细胞超微结构观察.电子显微学报,2004,23,45-46.
[8]姚光弼.临床肝脏病学.上海:上海科学技术出版社,2011.
[2]Wada M,Toh S,Taniguchi K,et al.Mutations in the canalicularmultispecific organic anion transporter(cMOAT)gene,a novel ABC transporter in patients with hyperbilirubinemiaⅡ/Dubin Johnson syndrome.Human Molecular Genetics,1998,7:203-207.
[3]Kartenbeck J,Leuschner U,Mayer R,et al.Absence of the canalicu-lar isoform of the MRP gene-encoded conjugate export pump fromthe hepatocytes in Dubin-Johnson syndrome.Hepatology,1996,23:1061-1066.
[4]Materna V,Lage H.Homozygous mutation Arg(768)Trp in the ABC-transporter encoding geneMRP2/[MOAT/ABCC2 causes Dubin-Johnson syndrome in a Caucasian patient.J Hum Genet,2003,48:484-486.
[5]王怡,赵桂鸣,李响,等.Dubin-Johnson综合征一家系.中华医学遗传学杂志,2007,24:655.
[6]向理科,罗子国,李圆圆,等.Dubin-Johnson综合征的病理学特征.中华肝脏病杂志,2000,8,45-47.
[7]陈明霞,赵文学,杨少毅.Dubin-Johnson综合征的肝细胞超微结构观察.电子显微学报,2004,23,45-46.
[8]姚光弼.临床肝脏病学.上海:上海科学技术出版社,2011.