Primary sclerosing cholangitis with PLKR and UGT1A1 mutation manifested as recurrent bile duct stones: A case report.

RATIONALE: 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.

PATIENT CONCERNS: A 26-year-old male patient complains a history of recurrent yellow skin and urine for over a year.

DIAGNOSES: 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.

INTERVENTIONS: 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.

OUTCOMES: The patient's liver biochemical parameters have improved significantly. His condition is stable and has not undergone liver transplantation at this time.

LESSONS: 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.