Congenital hepatic fibrosis in an adult female combined with Von Meyenburg complex and autosomal dominant polycystic kidney disease: a case report

Xinrui Ren, Yu Cui, Jiayi Song, Yiwen Tang, X C Xie, Wanchun Zhu, Zhuo Yu, Lingying Huang, Gao Y

Background Congenital hepatic fibrosis (CHF) is a rare disease associated with the polycystic kidney gene, and the initial symptoms are often associated with portal hypertension, such as splenomegaly and esophageal varices. While the basic clinical features and pathogenesis of isolated CHF have been thoroughly studied, patients frequently present variable combined phenotypes including autosomal dominant polycystic kidney disease (ADPKD) and Von Meyenburg complex (VMC). The pathogenic mechanisms driving these composite phenotypes require further exploration. Methods and results We report a case of an adult female patient who was admitted due to unexplained upper gastrointestinal bleeding. Upon admission, the patient was diagnosed with congenital hepatic fibrosis in conjunction with VMC and ADPKD, based on findings from liver puncture biopsy, exome sequencing (ES), biochemical tests, and imaging examinations. Conclusions The PKD1 gene is the causative gene for this patient’s CHF combined with VMC and ADPKD.