title: Microvillous inclusion disease: how to improve the prognosis of a severe congenital enterocyte disorder.
abstract: OBJECTIVE
  Microvillous inclusion disease (MVID) is a rare congenital enterocyte disorder causing severe diarrhea and intestinal failure. The objective of this study was to analyze clinical evolution and the most frequent complications of MVID in children receiving parenteral nutrition (PN) and after small-bowel transplantation (SBTx) with the aim to improve treatment strategies and prognosis.
  
  
  METHODS
  From 1995 to 2009, 24 patients (16 boys, median follow-up 4.7 years, range: from birth to 23.5 years) with MVID were admitted to our unit. The recorded parameters included growth, neurological development, liver and renal functions, bone disease, and outcome.
  
  
  RESULTS
  Almost half of the children were from consanguineous families from the Mediterranean area. All of the patients completely depended on PN. Four children died of PN complications before 4 years of age. Before or without SBTx, growth failure was common (mean height -2.5 standard deviations [SD]), as was developmental delay (12/24), liver (20/22 with fibrosis) or kidney disease (3/23 with moderate renal insufficiency), and osteoporosis (6/24). Thirteen children underwent SBTx (9 isolated, 4 combined with liver Tx) at a median age of 3.5 years. Follow-up after SBTx was 0.4 to 14 years. Patient survival rates were 63% without SBTx and 77% with SBTx. After SBTx, 4 children experienced catch-up growth.
  
  
  CONCLUSIONS
  PN in MVID is difficult to manage and requires expertise. Despite improved results in expert centers, the risk of death or irreversible sequelae is higher with PN than after Tx. SBTx, despite being complicated, remains the only hope to improve the quality of life and long-term prognosis of these children.
authors.affiliation: Pediatric Gastroenterology, Hepatology and Nutrition Unit, Necker-Enfants Malades Hospital, Assistance Publique-Hôpitaux de Paris, France.
authors.forename: Ugur
authors.initials: U
authors.lastname: Halac
authors.forename: Florence
authors.initials: F
authors.lastname: Lacaille
authors.forename: Francisca
authors.initials: F
authors.lastname: Joly
authors.forename: Jean-Pierre
authors.initials: JP
authors.lastname: Hugot
authors.forename: Cécile
authors.initials: C
authors.lastname: Talbotec
authors.forename: Virginie
authors.initials: V
authors.lastname: Colomb
authors.forename: Frank M
authors.initials: FM
authors.lastname: Ruemmele
authors.forename: Olivier
authors.initials: O
authors.lastname: Goulet
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D005260:Female; D006776:Hospitals, Pediatric; D006801:Humans; D002479:Inclusion Bodies; D007223:Infant; D007231:Infant, Newborn; D007421:Intestine, Small / Q000637:transplantation*; D008286:Malabsorption Syndromes / Q000175:diagnosis / Q000503:physiopathology / Q000601:surgery / Q000628:therapy; D008297:Male; D019083:Mediterranean Region; D008871:Microvilli / Q000473:pathology; D009081:Mucolipidoses / Q000175:diagnosis / Q000503:physiopathology / Q000601:surgery / Q000628:therapy; D010288:Parenteral Nutrition / Q000009:adverse effects; D011379:Prognosis; D012189:Retrospective Studies; D016019:Survival Analysis; D016896:Treatment Outcome