APHM, Hôpital Timone Enfants, Service de Pédiatrie Multidisciplinaire, Marseille, France.
APHM, Hôpital de la Conception, Laboratoire de Biochimie et de Biologie Moléculaire, Marseille, France.
J Pediatr Gastroenterol Nutr. 2021 Jun 1;72(6):826-832. doi: 10.1097/MPG.0000000000003049.
Congenital diarrhea and enteropathies linked to epithelial structural abnormalities constitute 3 different rare diseases: the tufting enteropathies (TE; EPCAM and SPINT2 mutations), microvillous inclusion disease (MVID; MYO5B and STX3 mutations), and tricho-hepato-enteric syndrome (THE; TTC37 and SKIV2L mutations). Moreover, enteroendocrine deficiencies (ED; PCSK1 and NEUROG3 mutations) share common clinical characteristics with TE, THE, and MVID in that the treatment requires, in most cases, long-term parenteral nutrition. Although numerous cases have been reported in the literature, aggregated data on morbidity and mortality are missing owing to the rarity of the diseases.
We performed a systematic review of all published cases and retrieved 86 articles describing 323 patients (164 boys and 135 girls).
The mortality rate was 20.28%, with a median age at death of 13.5 months (range 0-228 months); the mortality risk was 30.8/1000 person-year; in half of the cases, death was caused by infections. Parenteral nutrition was required in 95.4% of patients and weaning off from parenteral nutrition was achieved in 29.35% at a median age of 23 months (range 3.3-276 months). The patients with ED linked to PCSK1 were nearly all weaned at a median age of 14 months, but most of the patients became overweight. MVID patients with MYO5B mutations were most often born preterm. ED linked to NEUROG3 mutation and THE patients usually presented with intrauterine growth retardation.
This review presents data from 323 patients with congenital diarrhea linked to EPCAM TE, SPINT2 TE, TTC37 THE, SKIV2L THE, MYO5B MVID, STX3 MVID, NEUROG3 ED, and PCSK1 ED mutations.
与上皮结构异常相关的先天性腹泻和肠病构成了 3 种不同的罕见疾病：微绒毛包涵体病（MVID；MYO5B 和 STX3 突变）、微绒毛包涵体病（MVID；MYO5B 和 STX3 突变）和毛-肝-肠综合征（THE；TTC37 和 SKIV2L 突变）。此外，肠内分泌缺陷（ED；PCSK1 和 NEUROG3 突变）与 TE、THE 和 MVID 具有共同的临床特征，即大多数情况下需要长期肠外营养治疗。尽管文献中已有大量病例报道，但由于疾病罕见，发病率和死亡率的汇总数据仍缺失。
我们对所有已发表的病例进行了系统回顾，并检索到 86 篇描述 323 例患者（164 例男孩和 135 例女孩）的文章。
死亡率为 20.28%，中位死亡年龄为 13.5 个月（范围 0-228 个月）；死亡率风险为 30.8/1000人年；半数死亡由感染引起。95.4%的患者需要肠外营养，29.35%的患者在中位年龄 23 个月（范围 3.3-276 个月）时成功脱机。与 PCSK1 相关的 ED 患者几乎都在中位年龄 14 个月时脱机，但大多数患者超重。与 MYO5B 突变相关的 MVID 患者多为早产儿出生。与 NEUROG3 突变和 THE 相关的 ED 患者通常存在宫内生长迟缓。
本综述介绍了与 EPCAM TE、SPINT2 TE、TTC37 THE、SKIV2L THE、MYO5B MVID、STX3 MVID、NEUROG3 ED 和 PCSK1 ED 突变相关的 323 例先天性腹泻患者的数据。
