Clinical effect of functional genomic analysis combined with individualized drug selection in treatment of autosomal dominant polycystic kidney disease with congenital hepatic fibrosis： A case report
- VernacularTitle:功能基因组分析联合个体化药物筛选治疗常染色体显性多囊肾病合并先天性肝纤维化1例报告
- Author:
Kaidi ZHU
1
;
Jianzeng ZHANG
2
;
Hongyi LI
3
;
Mengqi YUAN
1
;
Ziying ZHANG
1
;
Zhe XU
1
;
Hongling LIU
4
;
Fusheng WANG
1
;
Xuechun LU
3
;
Lei SHI
1
Author Information
- Publication Type:Case Reports
- Keywords: Polycystic Kidney， Autosomal Dominant; Hepatic Fibrosis; Epigenomics; Precision Medicine
- From: Journal of Clinical Hepatology 2026;42(7):1670-1676
- CountryChina
- Language:Chinese
- Abstract: Autosomal dominant polycystic kidney disease （ADPKD） is a systemic hereditary renal disorder and can affect multiple organs， and congenital hepatic fibrosis is one of the manifestations of liver involvement and is an important complication of ADPKD. Symptomatic management is currently the main treatment method for this disease， and disease-specific drugs such as tolvaptan have limited indications and cannot correct the underlying genetic defect. This article reports a case of ADPKD with congenital hepatic fibrosis， and sirolimus was identified as the individualized treatment regimen based on peripheral blood functional genomic analysis and drug sensitivity prediction platform. The patient achieved significant improvements in symptoms and quality of life after treatment， with a stable kidney volume. This case shows that functional genomics has a potential value in guiding individualized treatment of rare genetic disorders， which provides new treatment ideas and practice paths for similar patients.
