ArticleJournal of clinical and translational hepatology2025
Analysis of the Disease Spectrum Characteristics of Inherited Metabolic Liver Diseases in Two Hepatology Specialist Hospitals in Beijing over the Past 20 Years.
Article in Journal of clinical and translational hepatology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed.
- Expert Consensus on the Diagnosis and Management of Inherited Hyperbilirubinemia (2025).Journal of clinical and translational hepatology · 2026Article
- [Research progress of inherited liver disease in 2025].Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology · 2026Review
- [Expert consensus on the diagnosis and therapy of inherited hyperbilirubinemia (version 2025)].Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology · 2025Article
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9 authors.
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Abstract
Background and Aims: Inherited metabolic liver diseases (IMLDs) have complex etiologies and vary widely in clinical presentation, with a significant overall incidence. With the advancements in diagnostic and treatment technologies, an increasing number of children with inherited metabolic diseases are surviving into adolescence and adulthood. These advancements have improved our understanding of the IMLD disease spectrum and clinical outcomes. This study aimed to analyze changes in the disease spectrum and epidemiological characteristics of inherited metabolic liver diseases (IMLD) over the past 20 years in two specialized liver disease hospitals in northern China. Methods: A retrospective analysis was conducted on IMLD cases diagnosed between January 1, 2002, and December 31, 2023, at two liver disease specialty hospitals in Beijing. Data were obtained from inpatient and outpatient hospital information systems, with diagnoses based on national and international IMLD diagnosis and treatment guidelines. Results: A total of 2,103 IMLD patients were analyzed, including 1,213 adults and 890 children. IMLD accounted for 4.58‰ of hospitalized liver disease patients during this period. The most common IMLD was Wilson's disease, comprising 68% of all IMLD cases. The number of diagnosed IMLD types increased from 15 to 32 across two 11-year periods (2002-2012 and 2013-2023). Among pediatric patients, glycogen storage disease and Alagille syndrome were more prevalent in those under one year of age, while Wilson's disease was prevalent across all age groups. In adult IMLD patients, Wilson's disease, polycystic liver disease, and hereditary hyperbilirubinemia were more frequently observed. Conclusions: Over the past 20 years, both the number of diagnosed IMLD cases and disease diversity have significantly increased, with Wilson's disease remaining the most prevalent IMLD. These findings provide valuable insights for the long-term management of IMLD patients and the allocation of healthcare resources.
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