Sahloul Abdulla, Lainka Elke, Kathemann Simone, Swoboda Sandra, Dröge Carola, Keitel Verena, Al-Matary Yahya Saleh, Berger Michael, Schulze Maren
Department of General, Visceral and Transplant Surgery, University Hospital Essen, University Duisburg-Essen, Essen, Germany.
Department of Pediatric Gastroenterology, University Hospital Essen, University Duisburg-Essen, Essen, Germany.
Front Surg. 2023 Jun 8;10:1074229. doi: 10.3389/fsurg.2023.1074229. eCollection 2023.
Progressive familial intrahepatic cholestasis (PFIC) is a heterogeneous disease characterized by progressive cholestasis in early childhood. Surgical therapy aims at preventing bile absorption either by external or internal biliary diversion (BD). Several different genetic subtypes encode for defects in bile transport proteins, and new subtypes are being discovered ongoingly. Overall, the literature is scarce, however, accumulating evidence points to PFIC 2 having a more aggressive course and to respond less favorable to BD. With this knowledge, we aimed to retrospectively analyze the long-term outcome of PFIC 2 compared to PFIC 1 following BD in children at our center.
Clinical data and laboratory findings of all children with PFIC, who were treated and managed in our hospital between 1993 and 2022, were analyzed retrospectively.
Overall, we treated 40 children with PFIC 1 ( = 10), PFIC 2 ( = 20) and PFIC 3 ( = 10). Biliary diversion was performed in 13 children (PFIC 1, = 6 and 2, = 7). Following BD, bile acids (BA) (p = 0.0002), cholesterol (p < 0.0001) and triglyceride (p < 0.0001) levels significantly decreased only in children with PFIC 1 but not in PFIC 2. Three out of 6 children (50%) with PFIC 1 and 4 out of 7 children (57%) with PFIC 2 required liver transplantation despite undergoing BD. On an individual case basis, BA reduction following BD predicted this outcome. Of the 10 children who had PFIC 3, none had biliary diversion and 7 (70%) required liver transplantation.
In our cohort, biliary diversion was effective in decreasing bile acids, cholesterol levels as well as triglycerides in the serum only in children with PFIC 1 but not PFIC 2. On an individual case level, a decrease in BA following BD predicted the need for liver transplantation.
进行性家族性肝内胆汁淤积症（PFIC）是一种异质性疾病，其特征为儿童早期出现进行性胆汁淤积。手术治疗旨在通过外部或内部胆汁转流（BD）来防止胆汁吸收。几种不同的基因亚型编码胆汁转运蛋白缺陷，并且新的亚型不断被发现。总体而言，相关文献较少，然而，越来越多的证据表明PFIC 2病程更具侵袭性，对BD的反应较差。基于这一认识，我们旨在回顾性分析在我们中心接受BD治疗的儿童中，PFIC 2与PFIC 1相比的长期结局。
回顾性分析1993年至2022年期间在我院接受治疗和管理的所有PFIC患儿的临床资料和实验室检查结果。
总体而言，我们治疗了40例PFIC患儿，其中PFIC 1型10例、PFIC 2型20例、PFIC 3型10例。13例患儿接受了胆汁转流手术（PFIC 1型6例，PFIC 2型7例）。BD后，仅PFIC 1型患儿的胆汁酸（BA）（p = 0.0002）、胆固醇（p < 0.0001）和甘油三酯（p < 0.0001）水平显著下降，而PFIC 2型患儿未下降。6例PFIC 1型患儿中有3例（50%）和7例PFIC 2型患儿中有4例（57%）尽管接受了BD仍需要肝移植。基于个体病例分析，BD后BA降低可预测这一结局。10例PFIC 3型患儿中，无人接受胆汁转流手术，7例（70%）需要肝移植。
在我们的队列中，胆汁转流仅对PFIC 1型患儿降低血清胆汁酸、胆固醇水平以及甘油三酯有效，对PFIC 2型患儿无效。在个体病例层面，BD后BA降低预示着需要肝移植。
