AIRE mutation in an elderly Caroli's patient with cholangitis and sepsis: a case report.

IF 0.9 Q3 MEDICINE, GENERAL & INTERNAL Journal of Medical Case Reports Pub Date : 2024-12-20 DOI:10.1186/s13256-024-04917-1

Yan Yan, Juanjuan Fu, Lilin Jiang, Zhonghua Lu, Renfang Chen

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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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老年Caroli患者胆管炎和败血症的AIRE突变：1例报告。

背景：Caroli病是一种常染色体隐性遗传病，是一种罕见的疾病，其诊断主要基于医学影像学和病理生理检查。它的特征是肝内囊性扩张或囊肿。肝切除病变肺叶可以治愈或避免恶性肿瘤的发生。病例介绍：一名65岁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及胆管炎，符合Caroli病的症状。此外，一份基因检测报告显示，自身免疫调节因子（AIRE）基因具有c.275G > a变异（p. Arg92Gln杂交突变），这与先前报道的Caroli病的PKHD1基因突变不同。结论：这一发现表明AIRE突变可能与Caroli病有关，具有死亡风险和难以治愈。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Journal of Medical Case Reports Medicine-Medicine (all)

CiteScore

1.50

自引率

0.00%

发文量

436

期刊介绍： JMCR is an open access, peer-reviewed online journal that will consider any original case report that expands the field of general medical knowledge. Reports should show one of the following: 1. Unreported or unusual side effects or adverse interactions involving medications 2. Unexpected or unusual presentations of a disease 3. New associations or variations in disease processes 4. Presentations, diagnoses and/or management of new and emerging diseases 5. An unexpected association between diseases or symptoms 6. An unexpected event in the course of observing or treating a patient 7. Findings that shed new light on the possible pathogenesis of a disease or an adverse effect