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首页> 外文期刊>BMC Pregnancy and Childbirth >Imaging manifestations of Caroli disease with autosomal recessive polycystic kidney disease: a case report and literature review
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Imaging manifestations of Caroli disease with autosomal recessive polycystic kidney disease: a case report and literature review

机译：Caroli病的成像表现与常染色体隐性多囊肾疾病的疾病：案例报告和文献综述

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Both Caroli disease (CD) and autosomal recessive polycystic kidney disease (ARPKD) are autosomal recessive disorders, which are more commonly found in infants and children, for whom surviving to adulthood is rare. Early diagnosis and intervention can improve the survival rate to some extent. This study adopted the case of a 26-year-old pregnant woman to explore the clinical and imaging manifestations and progress of CD concomitant with ARPKD to enable a better understanding of the disease. A 26-year-old pregnant woman was admitted to our hospital for more than 2?months following the discovery of pancytopenia and increased creatinine. Ultrasonography detected an enlarged left liver lobe, widened hepatic portal vein, splenomegaly, and dilated splenic vein. In addition, both kidneys were obviously enlarged and sonolucent areas of varying sizes were visible, but color Doppler flow imaging revealed no abnormal blood flow signals. The gestational age was approximately 25?weeks, which was consistent with the actual fetal age. Polyhydramnios was detected but no other abnormalities were identified. Magnetic resonance imaging revealed that the liver was plump, and polycystic liver disease was observed near the top of the diaphragm. The T1 and T2 weighted images were the low and high signals, respectively. The bile duct was slightly dilated; the portal vein was widened; and the spleen volume was enlarged. Moreover, the volume of both kidneys had increased to an abnormal shape, with multiple, long, roundish T1 and T2 abnormal signals being observed. Magnetic resonance cholangiopancreatography revealed that intrahepatic cystic lesions were connected with intrahepatic bile ducts. The patient underwent a genetic testing, the result showed she carried two heterozygous mutations in PKHD1. The patient was finally diagnosed with CD with concomitant ARPKD. The baby underwent a genetic test three months after birth, the result showed that the patient carried one heterozygous mutations in PKHD1, which indicated the baby was a PKHD1 carrier. This case demonstrates that imaging examinations are of great significance for the diagnosis and evaluation of CD with concomitant ARPKD.
机译：Caroli疾病（CD）和常染色体隐性多囊肾疾病（ARPKD）是常染色体隐性疾病，其在婴儿和儿童中更常见，为成年期罕见。早期诊断和干预可以在一定程度上提高生存率。本研究采用了一名26岁的孕妇的案例，探讨了临床和影像学的表现和CD伴随ARPKD的进展，以便更好地了解该疾病。在发现本宫内节不同程度和肌酐增加后，一名26岁的孕妇被送往我们的医院超过2个月。超声检查检测到扩大左肝叶，加宽肝门静脉，脾肿大和扩张脾静脉。此外，这两个肾脏都明显放大，并且可见的不同尺寸的声音区域，但彩色多普勒流动成像显示出没有异常的血流信号。孕龄约为25个？周，这与实际胎儿年龄一致。检测到多络合物，但没有发现其他异常。磁共振成像显示肝脏丰满，并且在隔膜顶部观察到多囊肝病。 T1和T2加权图像分别是低信号。胆管略微扩张;门静脉扩大;并且脾脏量扩大了。此外，两个肾脏的体积增加到异常形状，具有多个，长，圆形的T1和T2异常信号。磁共振胆管胆痴呆术显示，肝内囊性病变与肝内胆管连接。患者经历了遗传测试，结果表明她在PKHD1中携带了两个杂合突变。患者最终被诊断为CD，伴随着ARPKD。婴儿出生后三个月后受到遗传测试，结果表明，患者在PKHD1中携带一种杂合突变，表明婴儿是PKHD1载体。这种情况表明，成像考试对于具有伴随ARPKD的CD的诊断和评估具有重要意义。

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