Zhou Yijun, Shen Wei, Cui Yusheng, Li Yunjiang, Liu Hong, Bao Jianfeng, Jin Qiaofei
Department of Hepatology, Hangzhou Xixi Hospital, Hangzhou, Zhejiang Province, China.
Department of Radiology, Hangzhou Xixi Hospital, Hangzhou, Zhejiang Province, China.
Medicine (Baltimore). 2025 Jan 3;104(1):e41192. doi: 10.1097/MD.0000000000041192.
Primary sclerosing cholangitis (PSC) is characterized by idiopathic intra- and extrahepatic bile duct inflammation and biliary fibrotic changes. Recurrent bile duct stones due to PLKR and UGT1A1 mutation is an extremely rare complications of PSC.
A 26-year-old male patient complains a history of recurrent yellow skin and urine for over a year.
Following dynamic magnetic resonance cholangiopancreatography imaging, colonoscopic manifestation, liver biopsy and whole exome sequencing, the patient was finally diagnosed with PSC - ulcerative colitis with PLKR and UGT1A1 mutation.
Following resolution of the obstruction, a long-term regimen of 1000 mg/d ursodeoxycholic acid in combination with 10 mg/d obeticholic acid to improve cholestasis, 8 g/d colestyramine to facilitate adsorption of excess bile acids and 1.2 g/d rifaximin to prevent biliary tract infection were prescribed.
The patient's liver biochemical parameters have improved significantly. His condition is stable and has not undergone liver transplantation at this time.
Close and dynamic detection of the patient's biliary ductal lesions play an important role in the diagnosis of PSC. In the event of relatively rare biliary complications, attention should be paid to the presence of gene mutation.
原发性硬化性胆管炎（PSC）的特征是特发性肝内和肝外胆管炎症以及胆管纤维化改变。由PLKR和UGT1A1突变引起的复发性胆管结石是PSC极为罕见的并发症。
一名26岁男性患者诉说有一年多反复出现皮肤和尿液发黄的病史。
经过动态磁共振胰胆管造影成像、结肠镜表现、肝活检和全外显子测序，该患者最终被诊断为PSC - 伴有PLKR和UGT1A1突变的溃疡性结肠炎。
梗阻解除后，开出了长期治疗方案，即每天1000毫克熊去氧胆酸联合每天10毫克奥贝胆酸以改善胆汁淤积，每天8克考来烯胺以促进多余胆汁酸的吸附，以及每天1.2克利福昔明以预防胆道感染。
患者的肝脏生化指标有显著改善。他的病情稳定，目前尚未接受肝移植。
对患者胆管病变进行密切动态检测对PSC的诊断起着重要作用。对于相对罕见的胆道并发症，应注意基因突变的存在。
