Emond J C, Whitington P F
Liver Transplant Program, University of California, San Francisco 94143-0780, USA.
J Pediatr Surg. 1995 Dec;30(12):1635-41. doi: 10.1016/0022-3468(95)90440-9.
Progressive familial intrahepatic cholestasis (PFIC) presents in early childhood with pruritus, jaundice, hepatomegaly, and growth failure. Medical therapy is unsuccessful, with progression from cholestasis to hepatic fibrosis, cirrhosis, and ultimately death before the age of 10 years. Because of evidence that biliary diversion can arrest or reverse progression to hepatic fibrosis, we have used partial biliary diversion (PBD) as primary therapy in PFIC, reserving orthotopic liver transplantation (OLT) for children who have progressive disease or established cirrhosis. Seventeen children with PFIC (aged 2 months to 19 years) have been treated. PBD was performed in eight cases. In these procedures, a 10-cm properistaltic jejunal segment was anastomosed to the side of the gallbladder, terminating as an end stoma for the collection and discard of bile. Eleven patients with hepatic insufficiency (or end-stage cirrhosis) received OLT using standard techniques, at the average age of 4 years. Six of the eight children treated with PBD had complete resolution of clinical symptoms and remain well 1 to 13 years postoperatively. These six patients have conjugated bilirubin values of less than 0.3 mg/dL, normal transaminases, and a serum bile salt concentration of less than 10 nmol/mL. All have had either reversal or no progression of the hepatic fibrosis. Postoperative bleeding complications occurred in two (25%), which required reoperation. One patient had an adhesive intestinal obstruction that was managed surgically 9 months postoperatively. Two patients had no benefit from PBD, and all of them had severe bridging fibrosis (1) or cirrhosis (3). These and nine others with cirrhosis at the time of presentation received orthotopic liver transplantation; of these, eight are alive (1 to 5 years postoperatively). These results show the importance of establishing a correct diagnosis in children with cholestasis. Clinical symptoms often are severe in children with PFIC before the development of irreversible hepatic fibrosis. Because several patients who appear to have been cured with PBD initially were scheduled for OLT, it is important that transplant surgeons recognize the feasibility of this approach.
进行性家族性肝内胆汁淤积症（PFIC）在儿童早期出现瘙痒、黄疸、肝肿大和生长发育迟缓。药物治疗无效，疾病会从胆汁淤积进展为肝纤维化、肝硬化，最终在10岁前死亡。由于有证据表明胆汁转流可以阻止或逆转肝纤维化的进展，我们采用部分胆汁转流术（PBD）作为PFIC的主要治疗方法，仅将原位肝移植（OLT）用于患有进行性疾病或已确诊肝硬化的儿童。17例PFIC患儿（年龄2个月至19岁）接受了治疗。8例患儿接受了PBD手术。在这些手术中，将一段10厘米的蠕动性空肠段与胆囊侧面吻合，以末端造口作为胆汁收集和引流的出口。11例肝功能不全（或终末期肝硬化）患儿采用标准技术接受了OLT，平均年龄为4岁。接受PBD治疗的8例患儿中有6例临床症状完全缓解，术后1至13年情况良好。这6例患者的结合胆红素值低于0.3mg/dL，转氨酶正常，血清胆汁盐浓度低于10nmol/mL。所有患者的肝纤维化均已逆转或未进展。术后出血并发症发生在2例（25%）患儿中，需要再次手术。1例患者术后9个月发生粘连性肠梗阻，接受了手术治疗。2例患儿未从PBD中获益，他们均有严重的桥接纤维化（1例）或肝硬化（3例）。这些患儿以及另外9例就诊时即有肝硬化的患儿接受了原位肝移植；其中8例存活（术后1至5年）。这些结果表明，对胆汁淤积患儿进行正确诊断非常重要。在PFIC患儿出现不可逆肝纤维化之前，临床症状通常就很严重。由于最初一些看似已通过PBD治愈的患儿后来被安排接受OLT，因此移植外科医生认识到这种方法的可行性很重要。
