Alsohaibani Fahad I, Peedikayil Musthafa C, Alfadley Abdulaziz F, Aboueissa Mohamed K, Abaalkhail Faisal A, Alqahtani Saleh A
Department of Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
Int J Hepatol. 2023 Jul 20;2023:1960152. doi: 10.1155/2023/1960152. eCollection 2023.
Progressive familial intrahepatic cholestasis (PFIC) is a rare genetic disorder that results from defective mechanisms of bile secretion. We aim to describe different types of PFIC and their clinical features, treatment modalities, and outcomes in Saudi Arabia. . This is a retrospective study of all patients diagnosed with PFIC at King Faisal Specialist Hospital and Research Center in Riyadh from January 1, 2002, to December 31, 2021. All relevant information was collected from patient charts and transferred into the REDcap® database for statistical analysis.
A total of 79 patients were identified with PFIC, and PFIC type 3 was the most common (59.5%), followed by PFIC type 2 (34.2%), PFIC type 1 (5.1%), and PFIC type 4 (1.3%). Males and females were affected in 54.4% and 45.6%, respectively. Mutations in ATP8B1, ABCB11, and ABCB4 genes were observed in PFIC type 1, PFIC type 2, and PFIC type 3, and loss of function in a variant of TJP2 was detected in PFIC type 4, respectively. A total of 51 (64.6%) patients underwent liver transplantation: three patients (3/4) with PFIC type 1 (75%), twenty patients (20/27) with PFIC type 2 (74.1%), twenty-seven patients (27/47) with PFIC type 3 (57.4%), and one patient with PFIC type 4 (100%). The mean duration of disease before transplantation was 53.9 ± 67 months with a median of 30 months. Following liver transplantation, symptomatic control was achieved in 47 patients (92.2%). Recurrence after transplantation occurred in 4 patients (7.8%) within an average of 22.5 months and a median of 17 months.
PFIC is considered a rare disorder in Saudi Arabia; however, early recognition of the disease is important for appropriate management and early referral for liver transplantation evaluation. The overall rate of liver transplantation in our cohort was 64.6% with an excellent five-year survival rate.
进行性家族性肝内胆汁淤积症（PFIC）是一种罕见的遗传性疾病，由胆汁分泌机制缺陷引起。我们旨在描述沙特阿拉伯PFIC的不同类型及其临床特征、治疗方式和预后。这是一项对2002年1月1日至2021年12月31日在利雅得法赫德国王专科医院和研究中心被诊断为PFIC的所有患者的回顾性研究。所有相关信息均从患者病历中收集，并转入REDCap®数据库进行统计分析。
共确定79例PFIC患者，其中3型PFIC最为常见（59.5%），其次是2型PFIC（34.2%）、1型PFIC（5.1%）和4型PFIC（1.3%）。男性和女性患者分别占54.4%和45.6%。在1型PFIC、2型PFIC和3型PFIC中分别观察到ATP8B1、ABCB11和ABCB4基因的突变，在4型PFIC中检测到TJP2变体的功能丧失。共有51例（64.6%）患者接受了肝移植：1型PFIC患者中有3例（3/4，75%），2型PFIC患者中有20例（20/27，74.1%），3型PFIC患者中有27例（27/47，57.4%），4型PFIC患者中有1例（100%）。移植前疾病的平均持续时间为53.9±67个月，中位数为30个月。肝移植后，47例患者（92.2%）实现了症状控制。移植后复发发生在4例患者（7.8%）中，平均时间为22.5个月，中位数为17个月。
在沙特阿拉伯，PFIC被认为是一种罕见疾病；然而，早期识别该疾病对于适当管理和尽早转诊进行肝移植评估很重要。我们队列中的肝移植总体率为64.6%，五年生存率良好。
