AIRE mutation in an elderly Caroli’s patient with cholangitis and sepsis: a case report
- Open Access
- 01-12-2024
- Cholangitis
- Case report
Published in:
- Authors
- Yan Yan
- Juanjuan Fu
- Lilin Jiang
- Zhonghua Lu
- Renfang Chen
- Published in
- Journal of Medical Case Reports | Issue 1/2024
Abstract
Background
Caroli’s disease, an autosomal recessive, hereditary-related disorder, is a rare disease, in which the diagnosis is based primarily on medical imaging and pathophysiological examinations. It is characterized by intrahepatic cystic dilation or cysts. Hepatic resection of diseased lobes can cure or avoid the risk of malignancy.
Case presentation
A 65-year-old Asian man was admitted to our hospital with cholangitis and recurrent septicemia. The pathological diagnosis was polycystic bile duct dilation and cholangitis, consistent with the symptoms of Caroli’s disease. In addition, a genetic test report indicated that the autoimmune regulator (AIRE) gene had a c.275G > A variant (p. Arg92Gln hybrid mutation), which was different from the previously reported PKHD1 gene mutation in Caroli’s disease.
Conclusion
This finding suggests that AIRE mutations may be associated with Caroli’s disease, with a risk of death and difficulty in curing.
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- Title
- AIRE mutation in an elderly Caroli’s patient with cholangitis and sepsis: a case report
- Authors
-
Yan Yan
Juanjuan Fu
Lilin Jiang
Zhonghua Lu
Renfang Chen
- Publication date
- 01-12-2024
- Publisher
- BioMed Central
- Keywords
-
Cholangitis
Septicemia
Septicemia
Abdominal Pain - Published in
-
Journal of Medical Case Reports / Issue 1/2024
Electronic ISSN: 1752-1947 - DOI
- https://doi.org/10.1186/s13256-024-04917-1
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