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

Kaidi Zhu; Jianzeng Zhang; Hongyi Li; Mengqi Yuan; Ziying Zhang; Zhe Xu; Hongling Liu; Fusheng Wang; Xuechun Lu; Lei Shi

doi:10.12449/JCH260725

Volume 42 Issue 7

Jul. 2026

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Article Navigation > Journal of Clinical Hepatology > 2026 > 42(7): 1670-1676

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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

DOI: 10.12449/JCH260725

Kaidi Zhu^{1, 2, 3},
Jianzeng Zhang⁴,
Hongyi Li^{5, 6},
Mengqi Yuan^{1, 2, 3},
Ziying Zhang^{1, 2, 7},
Zhe Xu^{1, 2, 3, 7},
Hongling Liu⁸,
Fusheng Wang^{1, 2, 3, 7},
Xuechun Lu^{5, 6
,
,
,},
Lei Shi^{1, 2, 3, 7
,
,
,}

1.
Department of Infectious Diseases，Chinese PLA General Hospital，Beijing 100039，China
2.
National Clinical Research Center for Infectious Diseases，Beijing 100039，China
3.
Chinese PLA Medical School，Beijing 100853，China
4.
Department of Nuclear Medicine，The Fifth Medical Center of Chinese PLA General Hospital，Beijing 100039，China
5.
Department of Hematology，The Second Medical Center of Chinese PLA General Hospital，Beijing 100853，China
6.
National Clinical Research Center for Geriatric Diseases，Beijing 100853，China
7.
Peking University 302 Clinical Medical School，Beijing 100039，China
8.
Department of Hepatic Diseases，Chinese PLA General Hospital，Beijing 100039，China

Research funding:

National Science and Technology Major Project (2026ZD01912400);

Medical Technology Innovation Project of the General Hospital of the People’s Liberation Army (KY-2023-6-33-1);

Fund for Top Disciplinary Talents under the “3+1” Innovative Talent Development Program, Chinese People’s Liberation Army General Hospital (20230309)

More Information

Corresponding author: Lu Xuechun， luxuechun@126.com （ORCID： 0009-0006-2471-5125）; Shi Lei， shilei302@126.com （ORCID： 0000-0002-5727-3590）
Received Date: 2025-09-28
Accepted Date: 2026-01-09
Published Date: 2026-07-25

Abstract

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.
- Polycystic Kidney， Autosomal Dominant,
- Hepatic Fibrosis,
- Epigenomics,
- Precision Medicine

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References(24)

References

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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

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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

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