Cardiff Medical School, Cardiff, Wales.
Gastroenterology Department, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
J Pediatr Gastroenterol Nutr. 2018 Jun;66(6):967-971. doi: 10.1097/MPG.0000000000001894.
The aim of the study was to review long-term outcome of intestinal epithelial dysplasia (IED)/tufting enteropathy (TE) patients treated with parenteral nutrition (PN) at home managed by an intestinal failure (IF) rehabilitation service.
Infants presenting from 1986 to 2010 with IF, and TE histology were retrospectively reviewed for up to 30 years. Data collected included outcome, presentation, nutrition (parenteral/enteral), country of residence, race, EpCAM gene, growth, bone age, and occupation.
Thirteen patients (6 boys) in Malta and the UK with TE histology were established on home PN. Survival was 100% for UK children and 92% overall (1 death aged 13 months). Six patients (50% of the surviving 12) weaned off PN. Overall PN requirements reduced with increasing age and <7 infusions/week were needed by 10/12, 83% by 10 years, 6/8, 75% who had reached 15 years, 5/7, 71% who had reached 20, and all 4, 100% >25 years. Two of 12 cases weaned from PN by 10 years, 1 of 8 by 15 years, 3 of 7 by 20 years, and 3 of 4 or 75% >25 years. Seven Maltese patients homozygous for the same EPCAM gene abnormality had a similar outcome to the other cases. Weight, height, bone mineralization, bone age, and insulin-like growth factor-1 (IGF-1) levels were low, but improved with age. Patients achieved educational levels of parents and were employed.
IED cases should have >92% chance of long-term survival and >50% chance of enteral autonomy by/in early adult life and 75% by 25 years. Even if PN dependent s/he can gain employment. Patients with IED managed on PN at home by an IF rehabilitation service should avoid intestinal transplant.
本研究旨在回顾由肠衰竭（IF）康复服务管理的家庭肠外营养（PN）治疗的肠上皮异型增生（IED）/簇状肠病（TE）患者的长期预后。
回顾性分析 1986 年至 2010 年间因 IF 和 TE 组织学表现而就诊的婴儿，随访时间长达 30 年。收集的数据包括结局、表现、营养（肠外/肠内）、居住国家、种族、EpCAM 基因、生长、骨龄和职业。
马耳他和英国的 13 名（6 名男性）TE 组织学患者在家中接受 PN 治疗。英国儿童的生存率为 100%，总体生存率为 92%（1 例 13 月龄死亡）。6 名患者（12 名存活患者的 50%）成功脱离 PN。总体而言，PN 需求随年龄增长而减少，12 名患者中 10 名需要 <7 次/周，10 岁时 83%需要 <7 次/周，6/8 名需要 <7 次/周，15 岁时 75%需要 <7 次/周，20 岁时 5/7 名需要 <7 次/周，25 岁时 4/4 名或 100%需要 <7 次/周。10 岁时有 2 名、15 岁时有 1 名、20 岁时有 3 名、25 岁时有 4 名或 75%的患者成功脱离 PN。7 名马耳他患者携带相同的 EPCAM 基因突变，其结局与其他病例相似。体重、身高、骨矿化、骨龄和胰岛素样生长因子-1（IGF-1）水平较低，但随年龄增长而改善。患者的教育水平达到父母水平，并就业。
IED 患者的长期生存率应>92%，成年早期有>50%的机会实现肠内自主，25 岁时有>75%的机会实现肠内自主。即使需要 PN 支持，患者也可以就业。由 IF 康复服务管理的在家接受 PN 治疗的 IED 患者应避免进行肠移植。
