Gomes Ana Cristina, Rubino Gina, Pinto Carla, Cipriano Augusta, Furtado Emanuel, Gonçalves Isabel
Hospital Pediátrico de Coimbra, Centro Hospitalar da Universidade de Coimbra, Coimbra, Portugal.
Pediatr Transplant. 2012 Dec;16(8):E338-41. doi: 10.1111/j.1399-3046.2012.01683.x. Epub 2012 Mar 27.
BCS is a rare form of portal hypertension in children. The authors describe two cases of BCS with differing presentations. Case 1: Previously healthy four-yr-old girl. BCS was diagnosed during the course of an episode of acute gastroenteritis with dehydration. Despite conservative therapy for two months, the condition was progressive resulting in liver failure leading ultimately to LT. Molecular studies showed that she was heterozygous for the Factor (F) V Leiden. At follow-up, six yr post-LT (two yr without anticoagulation therapy), no thromboembolic/bleeding events were apparent. Case 2: Three-yr-old boy with IgA deficiency and liver disease. Following a febrile episode, he developed fulminant liver failure requiring urgent LT from a living donor (father). Molecular studies disclosed MTHFR C677T homozygosity and FV Leiden heterozygosity. The father was homozygous for the MTHFR mutation. Three months post-LT, persistent graft dysfunction was associated with stenosis of the IVC, which improved upon stent placement. He received dipyridamole and aspirin for five yr, after which time dipyridamole was discontinued. Evidence is sparse on the follow-up of BCS cases with liver transplant. The authors discuss their findings, particularly the need for long-term anticoagulation.
布加综合征（BCS）是儿童门静脉高压的一种罕见形式。作者描述了两例表现不同的BCS病例。病例1：一名此前健康的4岁女孩。BCS在一次伴有脱水的急性肠胃炎发作过程中被诊断出来。尽管进行了两个月的保守治疗，但病情仍在进展，导致肝衰竭，最终进行了肝移植（LT）。分子研究表明，她是凝血因子（F）V莱顿突变的杂合子。随访时，肝移植后6年（两年未进行抗凝治疗），未出现血栓栓塞/出血事件。病例2：一名患有IgA缺乏症和肝病的3岁男孩。在一次发热发作后，他发展为暴发性肝衰竭，需要接受来自活体供体（父亲）的紧急肝移植。分子研究显示其亚甲基四氢叶酸还原酶（MTHFR）C677T纯合子和F V莱顿杂合子。父亲是MTHFR突变的纯合子。肝移植后3个月，持续的移植物功能障碍与下腔静脉狭窄有关，放置支架后情况有所改善。他接受双嘧达莫和阿司匹林治疗了5年，之后停用了双嘧达莫。关于肝移植后BCS病例的随访证据很少。作者讨论了他们的发现，特别是长期抗凝的必要性。
