Division of Pediatric Gastroenterology, Hepatology and Nutrition.
Hillman Center for Pediatric Liver Transplantation, University of Pittsburgh Medical Center Children's Hospital of Pittsburgh, Pittsburgh, PA.
J Pediatr Gastroenterol Nutr. 2021 Apr 1;72(4):e81-e85. doi: 10.1097/MPG.0000000000003008.
Describe clinical characteristics, management, and outcome in a cohort of megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) patients.
We conducted a retrospective chart review of MMIHS patients followed at a large transplant and intestinal rehabilitation center over a period of 17 years.
We identified 25 patients with MMIHS (68% girls, 13 transplanted). One transplanted and 1 nontransplanted patient were lost to follow-up. We estimated 100, 100, and 86% for 5-, 10-, and 20-year survival, respectively, with only 1 death. Of the 22 patients alive at the time of study (11 transplanted, 11 nontransplanted), median age was 9.2 years (range 2.7-22.9 years). Longest posttransplant follow-up was 16 years. Seventeen patients had available prenatal imaging reports; all showed distended bladder. Eight had genetic testing (5, ACTG2; 2, MYH11; 1, MYL9). Almost all patients had normal growth with median weight z-score -0.77 (interquartile range -1.39 to 0.26), height z score -1.2 (-2.04 to -0.48) and body mass index z-score 0.23 (-0.37 to 0.93) with no statistical difference between transplanted and nontransplanted patients. All nontransplanted patients were on parenteral nutrition with minimal/no feeds, and all except 1 of the transplanted patients were on full enteral feeds. Recent average bilirubin, INR, albumin, and creatinine fell within the reference ranges.
This is the largest single-center case series with the longest duration of follow-up for MMIHS patients. In the current era of improved intestinal rehabilitation and transplantation, MMIHS patients have excellent outcomes in survival, growth, and liver function. This observation contradicts previous reports and should alter counselling and management decisions in these patients at diagnosis.
描述巨膀胱-小结肠-肠蠕动不良综合征（MMIHS）患者的临床特征、治疗方法和预后。
我们对一家大型移植和肠道康复中心在 17 年间收治的 MMIHS 患者进行了回顾性病历分析。
我们共发现 25 例 MMIHS 患者（68%为女孩，13 例接受了移植）。1 例移植患者和 1 例非移植患者失访。我们估计的 5 年、10 年和 20 年生存率分别为 100%、100%和 86%，仅有 1 例死亡。在研究时存活的 22 例患者（11 例移植，11 例非移植）中，中位年龄为 9.2 岁（范围 2.7-22.9 岁）。最长的移植后随访时间为 16 年。17 例患者有可用的产前影像学报告；均显示膀胱扩张。8 例患者进行了基因检测（5 例 ACTG2，2 例 MYH11，1 例 MYL9）。几乎所有患者的生长均正常，体重 z 评分中位数为-0.77（四分位距为-1.39 至 0.26），身高 z 评分中位数为-1.2（范围为-2.04 至-0.48），体重指数 z 评分中位数为 0.23（范围为-0.37 至 0.93），移植组与非移植组患者之间无统计学差异。所有非移植患者均接受肠外营养，且极少（或不）经口喂养，除 1 例外的移植患者均完全经肠内喂养。近期平均胆红素、INR、白蛋白和肌酐均在参考范围内。
这是目前最大的 MMIHS 患者单中心病例系列研究，随访时间最长。在目前肠道康复和移植技术不断进步的时代，MMIHS 患者在生存率、生长和肝功能方面的预后良好。这一观察结果与以往的报告相矛盾，应改变这些患者在诊断时的咨询和管理决策。
