Ferrochelatase Gene Variants Associated with Cholestasis in Adults: A Case Report
We reported a case of recurrent liver dysfunction in an adult patient with a history of abnormal liver enzymes persisting for over ten years. The primary abnormalities included elevated levels of gamma-glutamyl transferase and alkaline phosphatase. Despite conducting a series of extensive etiological tests to identify common causes of liver disease, the diagnosis remained unclear. However, whole-exome next-generation sequencing revealed a homozygous intronic mutation in the ferrochelatase gene (c.315-48T>C), which may be associated with the patient's cholestasis.
Authors
- Xiaona Lu (ORCID: https://orcid.org/0000-0003-2964-681X)
- Hai Feng (ORCID: https://orcid.org/0000-0001-9820-7111)
- Zhuo Yu (ORCID: https://orcid.org/0000-0003-4100-8415)
- Yueqiu Gao
- Wenlan Zheng (ORCID: https://orcid.org/0000-0003-4251-2760)
- Kun Liu (ORCID: https://orcid.org/0000-0001-5807-0501)
- Zuo‐Feng Zhang (ORCID: https://orcid.org/0000-0002-4669-3995)
- Jia Shi (ORCID: https://orcid.org/0000-0002-4765-6512)
- Shihan Yu
Institutions
- Shanghai University of Traditional Chinese Medicine (CN)
- Shuguang Hospital (CN)
Publication Details
- Journal
- Journal of Clinical and Translational Hepatology
- Published
- 2024-11-28
- DOI
- https://doi.org/10.14218/jcth.2024.00304
- Citations
- 1
- Primary Topic
- Liver Disease Diagnosis and Treatment
- Type
- article
- Field-Weighted Citation Impact
- 0.39
Funders
- National Natural Science Foundation of China
- Shanghai Education Development Foundation
- Shanghai Municipal Education Commission
- State Administration of Traditional Chinese Medicine of the People's Republic of China