Department of Medical Imaging (Radiology), the Affiliated Hospital of Hangzhou Normal University, Zhejiang, China.
Department of Infectious Disease (Liver Diseases), the Affiliated Hospital of Hangzhou Normal University, Zhejiang, China.
Radiologie (Heidelb). 2024 Nov;64(Suppl 1):102-108. doi: 10.1007/s00117-024-01324-x. Epub 2024 Jun 3.
Progressive familial intrahepatic cholestasis type 3 (PFIC-3) is a rare autosomal recessive cholestatic liver disorder. This study aimed to present the clinical and magnetic resonance imaging (MRI) features of three patients with PFIC‑3.
The study included three patients with cholestasis and pathogenic variants in the ABCB4 gene identified by next-generation sequencing of a targeted-gene panel or by whole-exome sequencing. The clinical, laboratory, histological, molecular, and MRI features of the patients were collected.
Three patients (one male and two females) were enrolled. The age when clinical signs and symptoms were first noted was 21, 14, and 39 years, respectively, and the signs and symptoms included pruritus and splenomegaly (in all three patients). Parenchymatous lace-like fibrosis was associated with periportal hyperintensity and periportal halo sign in three patients. Segmental atrophy was observed in two patients, diffuse atrophy was observed in one patient, and liver surface irregularity caused by regenerating nodules was observed in three patients. Magnetic resonance cholangiopancreatography (MRCP) images showed irregular bile duct changes in three patients, focal hilar bile duct stenosis, and local intrahepatic bile duct dilatation.
Imaging studies using MRI and MRCP can support the clinical and laboratory results in cases of PFIC‑3 and can also be used as a noninvasive diagnostic option.
进行性家族性肝内胆汁淤积症 3 型（PFIC-3）是一种罕见的常染色体隐性胆汁淤积性肝病。本研究旨在介绍 3 例 PFIC-3 患者的临床和磁共振成像（MRI）特征。
该研究纳入了 3 例因目标基因panel 下一代测序或全外显子组测序发现 ABCB4 基因突变而出现胆汁淤积的患者。收集了患者的临床、实验室、组织学、分子和 MRI 特征。
共纳入 3 例患者（男 1 例，女 2 例）。首次出现临床症状和体征的年龄分别为 21、14 和 39 岁，症状包括瘙痒和脾肿大（均见于 3 例患者）。3 例患者均存在肝实质花边状纤维化，伴门静脉周围高信号和门静脉周围晕征。2 例患者存在节段性萎缩，1 例患者存在弥漫性萎缩，3 例患者存在再生结节引起的肝表面不规则。磁共振胰胆管成像（MRCP）图像显示 3 例患者存在胆管不规则改变、肝门部胆管局限性狭窄和肝内胆管局限性扩张。
MRI 和 MRCP 等影像学研究可以支持 PFIC-3 的临床和实验室结果，也可以作为一种非侵入性诊断选择。
