ArticleFrontiers in medicine2024
Case report: ZFYVE19 gene mutation is associated with familial cholestasis.
Article in Frontiers in medicine, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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2 citing papers in PubMed.
- Repurposing metformin for choriocarcinoma: targeting the AMPK/mTOR pathway.Naunyn-Schmiedeberg's archives of pharmacology · 2026Review
- Therapeutic potential of microbiota modulation in psoriasis: current evidence and future directions.Archives of dermatological research · 2025Review
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4 authors.
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Abstract
The etiology of cholestatic liver disease is complex, with clinical manifestations being nonspecific, and biochemical abnormalities mainly characterized by elevated alkaline phosphatase (ALP) and glutamyl transpeptidase (GGT). Due to the lack of specific symptoms and diverse causes, the diagnosis poses certain challenges. Here, we present a case of liver cirrhosis with predominant cholestatic features of unknown etiology. Despite multiple comprehensive routine etiological screenings and liver biopsies, the diagnosis remained unclear. Subsequent whole exome sequencing revealed the diagnosis of liver cirrhosis caused by familial cholestasis related to a mutation in the ZFYVE19 gene. Through this case report analysis, we aim to broaden the diagnostic approach for cholestatic liver disease of unknown etiology, identify the cause accurately, and intervene promptly.
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