Nicastro Emanuele, Stephenne Xavier, Smets Françoise, Fusaro Fabio, de Magnée Catherine, Reding Raymond, Sokal Etienne M
Département de Pédiatrie, Cliniques Universitaires Saint Luc, Université Catholique de Louvain, Brussels, Belgium.
Pediatr Transplant. 2012 Aug;16(5):E177-82. doi: 10.1111/j.1399-3046.2011.01514.x. Epub 2011 Jun 15.
PFIC 1 is a genetic disorder characterized by hepatic and gastrointestinal disease, often requiring LT during childhood. Extrahepatic symptoms, such as diarrhea and malabsorption, do not improve or may be aggravated after LT, as graft steatosis or steatohepatitis as consequences of the interaction between transplanted liver and native bowel. We describe a patient with PFIC 1 who presented with cholestasis in infancy, who developed intractable pruritus and liver fibrosis. The child underwent living donor LT at 3.6 yr of age, and he early developed severe refractory diarrhea, secondary malabsorption with protein-losing enteropathy, and an early fatty liver disease trough graft steatohepatitis. As the response to cholestyramine was unsatisfactory, we decided to perform an EBD by using the jejunal loop used for the cholangiojejunostomy. Diarrhea resolved rapidly after surgery. He remained well after six months following biliary diversion, with normal stool output and no protein loss. We documented a dramatic improvement of graft steatosis at histology as well as normalization of liver function test. EBD can be considered a valuable treatment option to avoid organ disfunction and loss in PFIC 1 transplanted patients who develop graft steatohepatitis.
进行性家族性肝内胆汁淤积症1型（PFIC 1）是一种遗传性疾病，其特征为肝脏和胃肠道疾病，儿童期常需进行肝移植（LT）。肝外症状，如腹泻和吸收不良，在肝移植后不会改善，甚至可能加重，因为移植肝脏与天然肠道相互作用会导致移植肝脂肪变性或脂肪性肝炎。我们描述了一名患有PFIC 1的患者，该患者在婴儿期出现胆汁淤积，继而发展为难治性瘙痒和肝纤维化。该患儿在3.6岁时接受了活体供肝肝移植，术后早期出现严重难治性腹泻、继发性吸收不良伴蛋白丢失性肠病，以及早期因移植肝脂肪性肝炎导致的脂肪肝疾病。由于对消胆胺的反应不令人满意，我们决定通过用于胆肠吻合术的空肠袢进行内镜下胆管引流（EBD）。术后腹泻迅速缓解。胆道改道6个月后，他情况良好，大便正常，无蛋白丢失。我们记录到组织学上移植肝脂肪变性显著改善，肝功能检查也恢复正常。对于发生移植肝脂肪性肝炎的PFIC 1肝移植患者，EBD可被视为一种避免器官功能障碍和丧失的有价值的治疗选择。
