Primary sclerosing cholangitis complicated with ulcerative colitis and double gene mutations of UGT1A1 and SLC25A13: a case report.

Background: Primary sclerosing cholangitis (PSC) is the most common and clinically significant hepatobiliary extraintestinal manifestation of ulcerative colitis (UC), bringing considerable difficulties to clinical diagnosis and treatment and carrying a poor prognosis. Up to now, in-depth research is still required for the pathogenesis, early identification and standardized diagnosis and treatment of PSC-UC overlap syndrome, which holds prominent clinical value. Case presentation: This report details a case of primary sclerosing cholangitis (PSC) with concurrent ulcerative colitis (UC) in a young female who presented with persistent liver function abnormalities, abdominal pain, and diarrhea. The diagnosis was considered on the basis of histopathology, endoscopy, and imaging findings. Notably, genetic analysis identified heterozygous mutations in UGT1A1 (c.-3275 T > G, c.-1352A > C, c.1352C > T) and SLC25A13 (c.852_855del)-a combination not previously reported in PSC-UC. Treatment with ursodeoxycholic acid, glucocorticoids, and mesalazine led to adequate control of intestinal symptoms but only partial improvement in liver biochemistry. Conclusion: This case reports a rare instance of primary sclerosing cholangitis complicated with ulcerative colitis in a young female, who was detected to have heterozygous mutations in the UGT1A1 and SLC25A13 genes. These findings generate the hypothesis that genetic susceptibility in the pathogenesis of PSC-UC and may guide future clinical approaches.