Management of syndromic diarrhea/tricho-hepato-enteric syndrome: A review of the literature

摘要: Syndromic diarrhea/tricho-hepato-enteric syndrome (SD/THE) is a rare disease linked to the loss of function either TTC37 or SKIV2L, two components SKI complex. It characterized by combination 9 signs (intractable diarrhea, hair abnormalities, facial dysmorphism, immune IUGR/SGA, liver skin congenital heart defect and platelet abnormalities). We present comprehensive review management SD/THE tested therapeutic regimens. A literature was conducted in May 2017: 29 articles 2 abstracts were included describing total 80 patients, which 40 presented with mutations TTC37, 14 SKIV2L. Parenteral nutrition used 83% patients weaned 44% (mean duration 14.97 months). Immunoglobulins 33 but data on efficacy reported for 6 diminution infection (n = 3) diarrhea reduction 2). Antibiotics 11) provided no efficacy. Steroids 17) immunosuppressant drugs 13) little mostly IBD-like SD/THE. Hematopoietic stem cell transplantation (HSCT) performed 4 patients: died, one it corrected defects not other features last one, only partial improvement. Finally, specific diet effective except some contradictory reports elemental formula. In conclusion, mainly involves parenteral immunoglobulin supplementation. Antibiotics, steroids, immunosuppressants, HSCT are recommended as principle treatments since there evidence