一位患有胆管炎和败血症的老年卡罗利病患者的AIRE基因突变：病例报告
AIRE mutation in an elderly Caroli's patient with cholangitis and sepsis: a case report.
作者信息
Yan Yan, Fu Juanjuan, Jiang Lilin, Lu Zhonghua, Chen Renfang
机构信息
Clinical Medical Research Center, The Fifth People's Hospital of Wuxi, Affiliated Hospital of Jiangnan University, Wuxi, China.
Department of Pathology, The Fifth People's Hospital of Wuxi, Affiliated Hospital of Jiangnan University, Wuxi, China.
出版信息
J Med Case Rep. 2024 Dec 20;18(1):628. doi: 10.1186/s13256-024-04917-1.
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.
背景
卡罗里病是一种常染色体隐性遗传相关疾病，较为罕见，其诊断主要基于医学影像学和病理生理学检查。它的特征是肝内囊性扩张或囊肿。对患病肝叶进行肝切除术可治愈该病或避免恶变风险。
病例介绍
一名65岁的亚洲男性因胆管炎和复发性败血症入院。病理诊断为多囊性胆管扩张和胆管炎，与卡罗里病的症状相符。此外，一份基因检测报告显示，自身免疫调节因子（AIRE）基因存在c.275G＞A变异（p.Arg92Gln杂合突变），这与先前报道的卡罗里病中的PKHD1基因突变不同。
结论
这一发现表明，AIRE突变可能与卡罗里病有关，存在死亡风险且难以治愈。
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