Genetic Enteropathies Linked to Epithelial Structural Abnormalities and Enteroendocrine Deficiency: A Systematic Review

Objectives: Congenital diarrhea and enteropathies linked to epithelial structural abnormalities constitute 3 different rare diseases: the tufting (TE; EPCAM SPINT2 mutations), microvillous inclusion disease (MVID; MYO5B STX3 tricho-hepato-enteric syndrome (THE; TTC37 SKIV2L mutations). Moreover, enteroendocrine deficiencies (ED; PCSK1 NEUROG3 mutations) share common clinical characteristics with TE, THE, MVID in that treatment requires, most cases, long-term parenteral nutrition. Although numerous cases have been reported literature, aggregated data on morbidity mortality are missing owing rarity of diseases. Methods: We performed a systematic review all published retrieved 86 articles describing 323 patients (164 boys 135 girls). Results: The rate was 20.28%, median age at death 13.5 months (range 0–228 months); risk 30.8/1000 person-year; half caused by infections. Parenteral nutrition required 95.4% weaning off from achieved 29.35% 23 3.3–276 months). ED were nearly weaned 14 months, but became overweight. mutations often born preterm. mutation THE usually presented intrauterine growth retardation. Conclusions: This presents congenital MVID, ED, mutations.