Masetti M, Rodriguez M M, Thompson J F, Pinna A D, Kato T, Romaguera R L, Nery J R, DeFaria W, Khan M F, Verzaro R, Ruiz P, Tzakis A G
Department of Surgery, University of Miami School of Medicine, Florida 33136, USA.
Transplantation. 1999 Jul 27;68(2):228-32. doi: 10.1097/00007890-199907270-00011.
Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare autosomal recessive disorder causing a functional neonatal bowel obstruction. Its etiopathogenesis is not fully understood. The prognosis is poor in the majority of cases; most patients die before the age of 6 months. In this report, we describe our experience with three patients with MMIHS in whom multivisceral transplantation was performed.
Three patients with MMIHS underwent multivisceral transplantation. All patients were females with a history of long-term total parenteral nutrition (TPN) with TPN-related cholestatic liver disease.
Patient 1 died 17 months after transplantation because of aspiration after revision of her feeding gastrostomy. At the time of death, the graft was functioning and the patient was completely off TPN. Patient 2 is alive 17 months after transplant. She is a fully functional, active 2-year-old and has also recently begun oral feeding after intensive rehabilitation. Patient 3 died on day 44 of multisystem failure.
This is the first report in the literature of multivisceral transplantation for MMIHS. Although one of the three patients died 44 days after surgery from multiorgan system failure, the other two patients had long-term survival after transplant and both grew well on enteral feeding alone. One patient died 17 months from a non-transplant-related complication, while the other is living at home off of TPN, with almost complete dietary rehabilitation 17 months after transplant. Our case reports suggest that multivisceral transplantation is a valuable therapeutic option for patients affected by MMIHS with TPN-induced liver failure.
巨膀胱小结肠肠蠕动不良综合征（MMIHS）是一种罕见的常染色体隐性疾病，可导致功能性新生儿肠梗阻。其发病机制尚未完全明确。大多数病例预后较差；大多数患者在6个月前死亡。在本报告中，我们描述了3例接受多脏器移植的MMIHS患者的治疗经验。
3例MMIHS患者接受了多脏器移植。所有患者均为女性，有长期全胃肠外营养（TPN）病史及TPN相关的胆汁淤积性肝病。
患者1在移植后17个月因喂养胃造口修复术后误吸死亡。死亡时，移植物功能良好，患者已完全停用TPN。患者2在移植后17个月存活。她是一名功能完全正常、活跃的2岁儿童，经过强化康复治疗后最近也开始经口进食。患者3在术后第44天因多系统衰竭死亡。
这是文献中首例关于MMIHS多脏器移植的报告。尽管3例患者中有1例术后44天因多器官系统衰竭死亡，但另外2例患者移植后长期存活，且仅通过肠内喂养生长良好。1例患者17个月后死于与移植无关的并发症，而另1例患者移植后17个月在家中停用TPN，饮食几乎完全康复。我们的病例报告表明，多脏器移植对于受MMIHS影响并伴有TPN诱导的肝功能衰竭的患者是一种有价值的治疗选择。
