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

Abstract

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.

Keywords

• Caroli’s disease
• Cholangitis
• Septicemia
• Genetic mutation
• Case report