周学燕 1王烨 2邢睿 1李奕贤 1韩馨毅 3赵鹏2
作者信息
- 1. 青岛大学青岛医学院,山东青岛 266071
- 2. 青岛大学附属医院病理科
- 3. 青岛大学基础医学院
- 折叠
摘要
Abstract
Objective To investigate the clinicopathological features and gene mutation characteristics of patients with polycystic liver disease(PLD).Methods A retrospective analysis was performed for the clinical data of 12 PLD patients who at-tended Department of Liver Transplantation in our hospital from April 2019 to December 2023,and their clinical and histological features were analyzed.Whole-exome sequencing was performed for pathological samples of liver tissue from all patients.Results Among the 12 patients with PLD,there were 6 male patients and 6 female patients,with a mean age of(52.3+12.0)years.Of all 12 patients,8 underwent allogeneic liver transplantation,2 underwent laparoscopic fenestration of hepatic cysts,1 underwent allo-geneic combined liver-kidney transplantation,and 1 underwent laparoscopic left hemihepatectomy.There were similar pathological changes in the liver tissue of all patients,with hepatic cyst walls composed of hyperplastic fibrous tissue and lined by a single layer of flat,cuboidal,or columnar epithelium,different cyst wall thicknesses due to varying degrees of fibrous hyperplasia,and other changes including chronic inflammatory cell infiltration,degeneration,and hemorrhage.Whole-exome sequencing showed variants in the five PLD pathogenic genes PKD1,PKHD1,PRKCSH,PKD2,and LRP5 in eight patients,among which PKD1,PKHD1,and PKKCSH exhibited higher mutation frequencies,and the mutation types included missense mutations and inser-tions-deletions.Conclusion Patients with PLD may have multiple pathogenic mutations,predominantly in the PKD1,PKHD1,and PKKCSH genes,but the histopathological features of the liver remain consistent across different mutation types.关键词
多囊肝病/多囊肾疾病/DNA突变分析/全外显子组测序/INDEL突变/肝移植/预后Key words
Polycystic liver disease/Polycystic kidney diseases/DNA mutational analysis/Whole exome sequencing/INDEL mutation/Liver transplantation/Prognosis分类
临床医学
