Etiology spectrum， clinical features， and gene mutations of unexplained intrahepatic cholestasis： An analysis of 62 cases

Jialuo WANG; Yufeng ZHENG; Qingfang XIONG; Yongfeng YANG

doi:10.12449/JCH250217

Volume 41 Issue 2

Feb. 2025

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Article Navigation > Journal of Clinical Hepatology > 2025 > 41(2): 307-313

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Etiology spectrum， clinical features， and gene mutations of unexplained intrahepatic cholestasis： An analysis of 62 cases

DOI: 10.12449/JCH250217

Department of Infectious Diseases and Liver Diseases，Nanjing Hospital Affiliated to Nanjing University of Chinese Medicine & Nanjing Second Hospital，Nanjing 210003，China

Research funding:

National Natural Science Foundation of China (81970454);

The Graduate Research and Practice Innovation Program Project of Jiangsu Province (KYCX24_2180)

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Corresponding author: YANG Yongfeng， yangyongfeng@njucm.edu.cn （ORCID： 0000-0002-0942-4833）
Received Date: 2024-07-09
Accepted Date: 2024-09-23
Published Date: 2025-02-25

Abstract

Abstract

Objective To investigate the etiology and clinical features of intrahepatic cholestasis and the diagnostic value of whole exome sequencing （WES） through a retrospective analysis of the medical history， pathological results， and gene sequencing data of 62 patients with unexplained intrahepatic cholestasis. Methods A retrospective analysis was performed for the clinical data of 480 patients who underwent WES due to unexplained liver function abnormalities in Nanjing Second Hospital from January 2017 to December 2023， among whom 62 patients with unexplained intrahepatic cholestasis were selected based on laboratory data， and a confirmed diagnosis was made based on imaging data， pathological findings， and gene sequencing data. The patients with unexplained intrahepatic cholestasis were analyzed in terms of demographic features， clinical manifestation， etiology spectrum， and genetic profile. Results A total of 62 patients with unexplained intrahepatic cholestasis were included， among whom there were 35 male patients and 27 female patients， with a median age of 42 （7 — ‍77） years. WES was used to make a definite diagnosis in 21 patients （33.87%）， among whom the patients with familial intrahepatic cholestasis accounted for the highest proportion of 52.38% （11/21）； genetic metabolic disorders were excluded by WES in 34 patients， with drug-induced liver injury and sepsis-associated liver injury accounting for the highest proportion of 55.88% （19/34）， followed by primary biliary cholangitis and primary sclerosing cholangitis accounting for 20.59% （7/34） and intrahepatic bile duct stones accounting for 17.65% （6/34）， while the patients with a lack of confirmed diagnosis accounted for 11.29% （7/62）. A total of 21 novel mutation sites which were not reported in previous articles were identified in this study. Conclusion Genetic metabolic disorders constitute a significant proportion of unexplained intrahepatic cholestasis， and WES plays a crucial role in the diagnosis of unexplained intrahepatic cholestasis.
- Liver Diseases,
- Cholestasis， Intrahepatic,
- Diagnosis,
- Mutation

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References

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Etiology spectrum， clinical features， and gene mutations of unexplained intrahepatic cholestasis： An analysis of 62 cases

DOI: 10.12449/JCH250217

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Etiology spectrum， clinical features， and gene mutations of unexplained intrahepatic cholestasis： An analysis of 62 cases

DOI: 10.12449/JCH250217

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