Ruemmele Frank M, Jan Dominique, Lacaille Florence, Cézard Jean-Pierre, Canioni Danielle, Phillips Alan D, Peuchmaur Michel, Aigrain Yves, Brousse Nicole, Schmitz Jacques, Revillon Yann, Goulet Oliver
Combined Program of Liver and Intestinal Transplantation, Hôpital Necker-Enfants Malades, Paris, France.
Transplantation. 2004 Apr 15;77(7):1024-8. doi: 10.1097/01.tp.0000119163.30745.c1.
Microvillous inclusion disease (MVID) is a congenital intestinal epithelial cell disorder leading to lifelong intestinal failure. Despite long-term total parenteral nutrition, life expectancy is extremely reduced because of metabolic or septic complications or liver failure.
Twelve patients with early-onset MVID were evaluated between 1995 and 2002 for the possibility of small bowel transplantation (SbTx). Three patients died before they could be placed on the waiting list for SbTx, and one patient is still awaiting SbTx. SbTx was contraindicated in one patient.
Seven of 12 patients (six boys and one girl) underwent transplantation (three SbTxs and four combined liver-SbTxs). Actuarial survival rates were 100% and 75% in the SbTx and combined liver-SbTx groups, respectively, with a mean follow-up of 3 years (1.1-8.5 years). In contrast, the survival rate was only 40% in the subgroup of five patients who did not undergo transplantation. After transplantation, all patients were weaned from parenteral nutrition: the five patients with an additional colon graft were weaned within 36 days as opposed to the others without colonic transplant who obtained full intestinal autonomy several months after transplantation. The only two surviving patients who did not undergo SbTx remain highly dependent on total parenteral nutrition, which is complicated by repeated episodes of metabolic decompensation.
SbTx alone or in combination with the liver is highly successful in children with MVID, offering them a long-term perspective for the first time. Associated colon grafting markedly improves the outcome and quality of life after SbTx in patients with MVID.
微绒毛包涵体病（MVID）是一种先天性肠道上皮细胞疾病，可导致终身肠道衰竭。尽管长期接受全胃肠外营养，但由于代谢或感染并发症或肝功能衰竭，预期寿命仍会大幅缩短。
1995年至2002年间，对12例早发型MVID患者进行了小肠移植（SbTx）可能性评估。3例患者在能够列入SbTx等待名单之前死亡，1例患者仍在等待SbTx。1例患者存在SbTx禁忌证。
12例患者中的7例（6名男孩和1名女孩）接受了移植（3例小肠移植和4例肝-小肠联合移植）。小肠移植组和肝-小肠联合移植组的精算生存率分别为100%和75%，平均随访3年（1.1 - 8.5年）。相比之下，未接受移植的5例患者亚组的生存率仅为40%。移植后，所有患者均停用了肠外营养：5例接受额外结肠移植的患者在36天内停用，而其他未进行结肠移植的患者在移植后数月才实现完全肠道自主。仅有的2例未接受小肠移植的存活患者仍高度依赖全胃肠外营养，且伴有反复的代谢失代偿发作。
单独或联合肝脏进行小肠移植在MVID患儿中非常成功，首次为他们提供了长期的前景。相关的结肠移植显著改善了MVID患者小肠移植后的结局和生活质量。
