AIRE mutation in an elderly Caroli’s patient with cholangitis and sepsis: a case report
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...
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BMC
2024-12-01
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| Series: | Journal of Medical Case Reports |
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| Online Access: | https://doi.org/10.1186/s13256-024-04917-1 |
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| author | Yan Yan Juanjuan Fu Lilin Jiang Zhonghua Lu Renfang Chen |
| author_facet | Yan Yan Juanjuan Fu Lilin Jiang Zhonghua Lu Renfang Chen |
| author_sort | Yan Yan |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-6d96e23e99c845e0ac1bde71edbbd840 |
| institution | OA Journals |
| issn | 1752-1947 |
| language | English |
| publishDate | 2024-12-01 |
| publisher | BMC |
| record_format | Article |
| series | Journal of Medical Case Reports |
| spelling | doaj-art-6d96e23e99c845e0ac1bde71edbbd8402025-08-20T02:31:48ZengBMCJournal of Medical Case Reports1752-19472024-12-011811410.1186/s13256-024-04917-1AIRE mutation in an elderly Caroli’s patient with cholangitis and sepsis: a case reportYan Yan0Juanjuan Fu1Lilin Jiang2Zhonghua Lu3Renfang Chen4Clinical Medical Research Center, The Fifth People’s Hospital of Wuxi, Affiliated Hospital of Jiangnan UniversityDepartment of Pathology, The Fifth People’s Hospital of Wuxi, Affiliated Hospital of Jiangnan UniversityDepartment of Pathology, The Fifth People’s Hospital of Wuxi, Affiliated Hospital of Jiangnan UniversityDepartment of Infectious Disease, The Fifth People’s Hospital of Wuxi, Affiliated Hospital of Jiangnan UniversityDepartment of Infectious Disease, The Fifth People’s Hospital of Wuxi, Affiliated Hospital of Jiangnan UniversityAbstract 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.https://doi.org/10.1186/s13256-024-04917-1Caroli’s diseaseCholangitisSepticemiaGenetic mutationCase report |
| spellingShingle | Yan Yan Juanjuan Fu Lilin Jiang Zhonghua Lu Renfang Chen AIRE mutation in an elderly Caroli’s patient with cholangitis and sepsis: a case report Journal of Medical Case Reports Caroli’s disease Cholangitis Septicemia Genetic mutation Case report |
| title | AIRE mutation in an elderly Caroli’s patient with cholangitis and sepsis: a case report |
| title_full | AIRE mutation in an elderly Caroli’s patient with cholangitis and sepsis: a case report |
| title_fullStr | AIRE mutation in an elderly Caroli’s patient with cholangitis and sepsis: a case report |
| title_full_unstemmed | AIRE mutation in an elderly Caroli’s patient with cholangitis and sepsis: a case report |
| title_short | AIRE mutation in an elderly Caroli’s patient with cholangitis and sepsis: a case report |
| title_sort | aire mutation in an elderly caroli s patient with cholangitis and sepsis a case report |
| topic | Caroli’s disease Cholangitis Septicemia Genetic mutation Case report |
| url | https://doi.org/10.1186/s13256-024-04917-1 |
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