Zhu Beidi, Du Zunguo, Wang Zhengxin, Li Yang, Zhang Jiming, Zhu Haoxiang
Department of Infectious Diseases, Huashan Hospital, Fudan University, 12 Middle Wulumuqi Road, Shanghai 200040, China.
Department of Pathology, Huashan Hospital, Fudan University, 12 Middle Wulumuqi Road, Shanghai 200040, China.
Gastroenterol Res Pract. 2020 Apr 21;2020:8284274. doi: 10.1155/2020/8284274. eCollection 2020.
Congenital hepatic fibrosis is a hereditary fibropolycystic disease caused by ductal plate malformation. It is characterized by portal hypertension, but the manifestations, management, and outcome vary in children and adults. To raise awareness of medical staff, we have comprehensively compared the clinical features of congenital hepatic fibrosis between children and adults.
We retrospectively enrolled all patients diagnosed with congenital hepatic fibrosis at the Huashan Hospital from August 2015 to August 2017 and analyzed their familial, clinical, laboratory, imaging, treatment, and follow-up data in detail. In addition, we reviewed cases with congenital hepatic fibrosis reported in the past 20 years in China and analyzed them according to the patients' age.
A total of eight patients were diagnosed with congenital hepatic fibrosis in the study, including four children and four adults. The onset age of the children, who suffered from severe complications of portal hypertension and needed liver transplantation, ranged from 1 to 15 years old. The disorder developed in adults aged 26 to 60 years old. Three adults complained of recurrent abnormal liver function at the onset of illness, and they mainly received conservative treatments. The literature review included 30 children and 33 adults. In comparison, hepatomegaly was more common in children than in adults (57% . 21%, = 0.004). Malformation of kidneys and bile duct abnormalities were common, and multisystem involvement included eyes, other digestive organs, and genital and central nervous systems.
Serious complications of portal hypertension developed in children requiring liver transplantation, while adults often had mild-to-moderate liver injuries upon onset. Adults with CHF varied a lot in clinical manifestations. Multiorgan involvement and unusual course are helpful to make a diagnosis. Timely histological assessment by liver biopsy and multidisciplinary cooperation are crucial for definitive diagnosis and early intervention.
先天性肝纤维化是一种由胆管板畸形引起的遗传性纤维多囊性疾病。其特征为门静脉高压，但儿童和成人的表现、治疗及预后有所不同。为提高医务人员的认识，我们全面比较了儿童和成人先天性肝纤维化的临床特征。
我们回顾性纳入了2015年8月至2017年8月在华山医院诊断为先天性肝纤维化的所有患者，并详细分析了他们的家族史、临床、实验室、影像学、治疗及随访数据。此外，我们回顾了中国过去20年报道的先天性肝纤维化病例，并根据患者年龄进行分析。
本研究共诊断出8例先天性肝纤维化患者，其中儿童4例，成人4例。儿童发病年龄为1至15岁，患有严重的门静脉高压并发症，需要进行肝移植。该疾病在26至60岁的成人中发病。3例成人在发病初期抱怨肝功能反复异常，他们主要接受保守治疗。文献回顾包括30例儿童和33例成人。相比之下，肝肿大在儿童中比成人更常见（57%对21%，P = 0.004）。肾脏畸形和胆管异常常见，多系统受累包括眼睛、其他消化器官以及生殖和中枢神经系统。
儿童出现需要肝移植的严重门静脉高压并发症，而成人发病时往往有轻至中度肝损伤。先天性肝纤维化成人患者的临床表现差异很大。多器官受累及不寻常病程有助于诊断。通过肝活检及时进行组织学评估和多学科合作对于明确诊断和早期干预至关重要。
