Khudhair Maha Arkan, Christensen Rikke, Skakkebæk Anne, Graverholt Jakob Grue, Lødrup Anders Bergh
Department of Medicine, Gødstrup Regional Hospital, Herning, Central Denmark Region, Denmark.
Department of Gastroenterology and Hepatology, Aalborg University Hospital, North Denmark Region, Denmark.
SAGE Open Med Case Rep. 2025 Jun 6;13:2050313X251346657. doi: 10.1177/2050313X251346657. eCollection 2025.
Caroli's syndrome is a rare autosomal recessive disorder characterized by segmental cystic dilation of the intrahepatic bile ducts and congenital hepatic fibrosis. It is associated with autosomal recessive polycystic kidney disease. Here, we report a 63-year-old male known with polycystic kidney disease, who was admitted to our hospital with intermittent fever, accompanied by weight loss. Magnetic resonance cholangiopancreatography suggested the presence of Caroli's syndrome, characterized by cystic dilation of the intrahepatic proximal bile ducts on both the right and left lobes of the liver. Shear wave elastography revealed the presence of mild liver fibrosis. The patient recovered with broad-spectrum antibiotics. Genetic testing found no evidence of variation in the gene. However, a heterozygous deletion of the gene was identified, a deletion that has not previously been linked to disease, and therefore the patient's family was offered genetic analysis. The patient has since remained free of cholangitis and icterus and continues to be followed in the nephrology department.
卡罗里氏综合征是一种罕见的常染色体隐性疾病，其特征为肝内胆管节段性囊性扩张和先天性肝纤维化。它与常染色体隐性多囊肾病有关。在此，我们报告一名63岁已知患有多囊肾病的男性，他因间歇性发热伴体重减轻入住我院。磁共振胰胆管造影显示存在卡罗里氏综合征，其特征为肝脏左右叶肝内近端胆管囊性扩张。剪切波弹性成像显示存在轻度肝纤维化。患者使用广谱抗生素后康复。基因检测未发现该基因变异的证据。然而，发现该基因存在杂合缺失，这种缺失以前未与疾病相关联，因此为患者家属提供了基因分析。此后，患者未再发生胆管炎和黄疸，继续在肾病科接受随访。
