Department of Pediatric Surgery, Capital Institute of Pediatrics-Peking University Teaching Hospital, No. 2 Yabao Road, Beijing, 100020, China.
Department of Pediatric Surgery, Southampton General Hospital, Coxford Road, Southampton, SO16 5YA, UK.
Pediatr Surg Int. 2021 Jun;37(6):723-730. doi: 10.1007/s00383-021-04871-9. Epub 2021 Mar 2.
Progressive familial intrahepatic cholestasis (PFIC) is a cohort of autosomal recessive syndromes which presents with jaundice, severe pruritus and liver derangement. Without treatments, patients progress to liver failure in early childhood. Biliary diversion strategies have been deployed to interrupt enterohepatic circulation to alleviate symptoms and delay progression to cirrhosis. Cholecystocolostomy has been the diversion method of choice at our institution and we aim to evaluate its long-term outcome.
All patients with PFIC who underwent cholecystocolostomy between August 2003 to May 2019 were included. PFIC diagnosed by clinical course, serum liver biochemistry and genotyping excluding other causes of cholestasis. All patients received ursodeoxycholic acid prior to biliary diversion. Those without long-term follow-up were excluded. Long-term follow-up conducted with physical examination, abdominal ultrasonography, liver function tests, contrast enema studies and colonoscopies. Outcome analysis was performed with patients divided into three groups according to their postoperative responses.
58 children underwent cholecystocolostomy, 41 were included in the study. Overall survival rate was 73.2% without a liver transplant. Survival improved to 81.1% in those without cirrhosis. 83.3% of those without a transplant was to no longer need any medication after their cholecystocolostomy. Recurrent cholestasis was seen in those with constipation (n = 8), ascending cholangitis (n = 10), intrahepatic reflux from Y-loop (n = 3) and cystic duct stenosis (n = 4).
Cholecystocolostomy is a safe and effective technique for treatment of cholestasis in PFIC patients without cirrhosis. Careful monitoring and proactive management of postoperative constipation and ascending cholangitis is required to prevent stenosis of the cystic duct leading to recurrent cholestasis.
进行性家族性肝内胆汁淤积症（PFIC）是一组常染色体隐性遗传综合征，表现为黄疸、严重瘙痒和肝功能障碍。如果没有治疗，患者会在儿童早期发展为肝功能衰竭。胆道分流策略已被用于阻断肠肝循环以缓解症状并延缓肝硬化的进展。胆囊胆管造口术一直是我们机构的首选分流方法，我们旨在评估其长期结果。
所有 2003 年 8 月至 2019 年 5 月期间接受胆囊胆管造口术的 PFIC 患者均纳入研究。PFIC 根据临床过程、血清肝功能和基因分型诊断，排除其他原因引起的胆汁淤积。所有患者在胆道分流前均接受熊去氧胆酸治疗。排除无长期随访的患者。通过体格检查、腹部超声、肝功能检查、对比灌肠研究和结肠镜检查进行长期随访。根据患者术后反应将其分为三组进行结果分析。
58 例儿童接受了胆囊胆管造口术，其中 41 例纳入研究。无肝移植的总存活率为 73.2%。无肝硬化的存活率提高到 81.1%。83.3%的未移植患者在胆囊胆管造口术后不再需要任何药物治疗。便秘（n=8）、上行性胆管炎（n=10）、Y 型袢内肝内反流（n=3）和胆囊管狭窄（n=4）患者出现复发性胆汁淤积。
对于无肝硬化的 PFIC 患者，胆囊胆管造口术是一种安全有效的治疗胆汁淤积的方法。需要仔细监测和积极管理术后便秘和上行性胆管炎，以防止胆囊管狭窄导致复发性胆汁淤积。
