Case Report: A rare case of familial progressive cholestasis type 10 in an adult with heterozygous MYO5B variant Article Swipe
Huimin Zhang
,
Qiang Wang
,
Xu Chuanyan
,
Jing Chen
·
YOU?
·
· 2025
· Open Access
·
· DOI: https://doi.org/10.3389/fgstr.2025.1435168
YOU?
·
· 2025
· Open Access
·
· DOI: https://doi.org/10.3389/fgstr.2025.1435168
Progressive familial intrahepatic cholestasis (PFIC) is a group of rare autosomal recessive cholestatic liver diseases that typically manifest in infancy or childhood. It is characterized by intrahepatic cholestasis, jaundice, pruritus, and malabsorption, with potential progression to cirrhosis, liver failure, and hepatocellular carcinoma. Here, we report a 36-year-old Chinese male patient with delayed-onset PFIC who presented with recurrent jaundice and pruritus. Laboratory investigations excluded viral, autoimmune, or neoplastic causes of liver injury. Liver biopsy demonstrated hepatocyte hydropic degeneration and intracanalicular bile thrombi, while genetic testing revealed compound heterozygous variants in the MYO5B gene: c.3604-1G>C and c.1165G>T (p.V389F). The patient exhibited fluctuating bilirubin levels refractory to initial therapies including corticosteroids, ursodeoxycholic acid, cholestyramine, and artificial liver support. However, bilirubin normalization was achieved following adjunctive traditional Chinese medicine therapy after transfer to our institution. This case highlights that genetic etiologies, particularly MYO5B-related disorders, should be considered in patients presenting with recurrent hyperbilirubinemia, pruritus, and hepatosplenomegaly after excluding common causes (viral, autoimmune, drug-induced, or tumor-related). Genetic testing for MYO5B mutations is warranted in cases of high bilirubin with normal/mildly elevated GGT levels, as early recognition is critical for timely intervention.
Related Topics
Concepts
Cholestasis
Progressive familial intrahepatic cholestasis
Medicine
Pediatrics
Internal medicine
Liver transplantation
Transplantation
Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.3389/fgstr.2025.1435168
- https://www.frontiersin.org/journals/gastroenterology/articles/10.3389/fgstr.2025.1435168/pdf
- OA Status
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- References
- 23
- Related Works
- 10
- OpenAlex ID
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All OpenAlex metadata
Raw OpenAlex JSON
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https://openalex.org/W4411030971Canonical identifier for this work in OpenAlex
- DOI
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https://doi.org/10.3389/fgstr.2025.1435168Digital Object Identifier
- Title
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Case Report: A rare case of familial progressive cholestasis type 10 in an adult with heterozygous MYO5B variantWork title
- Type
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articleOpenAlex work type
- Language
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enPrimary language
- Publication year
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2025Year of publication
- Publication date
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2025-06-04Full publication date if available
- Authors
-
Huimin Zhang, Qiang Wang, Xu Chuanyan, Jing ChenList of authors in order
- Landing page
-
https://doi.org/10.3389/fgstr.2025.1435168Publisher landing page
- PDF URL
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https://www.frontiersin.org/journals/gastroenterology/articles/10.3389/fgstr.2025.1435168/pdfDirect link to full text PDF
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YesWhether a free full text is available
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diamondOpen access status per OpenAlex
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https://www.frontiersin.org/journals/gastroenterology/articles/10.3389/fgstr.2025.1435168/pdfDirect OA link when available
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Cholestasis, Progressive familial intrahepatic cholestasis, Medicine, Pediatrics, Internal medicine, Liver transplantation, TransplantationTop concepts (fields/topics) attached by OpenAlex
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0Total citation count in OpenAlex
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10Other works algorithmically related by OpenAlex
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| abstract_inverted_index.tumor-related). | 160 |
| abstract_inverted_index.ursodeoxycholic | 108 |
| abstract_inverted_index.c.1165G>T | 94 |
| abstract_inverted_index.corticosteroids, | 107 |
| abstract_inverted_index.intracanalicular | 78 |
| abstract_inverted_index.c.3604-1G>C | 92 |
| abstract_inverted_index.hepatosplenomegaly | 151 |
| abstract_inverted_index.hyperbilirubinemia, | 148 |
| cited_by_percentile_year | |
| countries_distinct_count | 0 |
| institutions_distinct_count | 4 |
| citation_normalized_percentile.value | 0.30915528 |
| citation_normalized_percentile.is_in_top_1_percent | False |
| citation_normalized_percentile.is_in_top_10_percent | False |