title: [Intestinal failure and transplantation in microvillous inclusion disease].
abstract: BACKGROUND
  Microvillous inclusion disease is a rare autosomal recessive condition, characterized by severe secretory diarrhea that produces a permanent intestinal failure and dependency on parenteral nutrition. It usually begins in the neonatal period, and the only treatment at present is intestinal transplantation.
  
  
  METHODS
  A retrospective review was conducted on 6 patients (three males and three females) diagnosed with microvillous inclusion disease between 1998 and 2013.
  
  
  RESULTS
  All debuted in the first month of life, with a median age of three days (range, 3-30 days), and had secretory diarrhea dependent on parenteral nutrition, with fasting fecal volume of 150-200ml/kg/day. Light microscopy of duodenal biopsy samples showed varying degrees of villous atrophy without cryptic hyperplasia, accumulation of PAS positive material in the cytoplasm of enterocytes brush border, and anti-CD10 immunostaining was suggestive of intracytoplasmic inclusions. Diagnostic confirmation was performed with electron microscopy. Two of them had a genetic study, and showed mutations in MYO5B gene. Three died and three are alive; two of them with an intestinal transplantation and the third waiting for a multivisceral transplantation.
authors.affiliation: Servicio de Gastroenterología, Hospital Universitario La Paz, Madrid, España. Electronic address: beatrizfdezcaamano@gmail.com.
authors.forename: B
authors.initials: B
authors.lastname: Fernández Caamaño
authors.affiliation: Servicio de Gastroenterología, Hospital Universitario La Paz, Madrid, España.
authors.forename: M J
authors.initials: MJ
authors.lastname: Quiles Blanco
authors.affiliation: Servicio de Gastroenterología, Hospital Universitario La Paz, Madrid, España.
authors.forename: L
authors.initials: L
authors.lastname: Fernández Tomé
authors.affiliation: Servicio de Anatomía Patológica, Hospital Universitario La Paz, Madrid, España.
authors.forename: E
authors.initials: E
authors.lastname: Burgos Lizáldez
authors.affiliation: Servicio de Gastroenterología, Hospital Universitario La Paz, Madrid, España.
authors.forename: J
authors.initials: J
authors.lastname: Sarría Osés
authors.affiliation: Servicio de Gastroenterología, Hospital Universitario La Paz, Madrid, España.
authors.forename: M
authors.initials: M
authors.lastname: Molina Arias
authors.affiliation: Servicio de Gastroenterología, Hospital Universitario La Paz, Madrid, España.
authors.forename: G
authors.initials: G
authors.lastname: Prieto Bozano
mesh_terms: D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007410:Intestinal Diseases / Q000209:etiology; D007422:Intestines / Q000637:transplantation*; D008286:Malabsorption Syndromes / Q000150:complications* / Q000601:surgery*; D008297:Male; D008871:Microvilli / Q000473:pathology*; D009081:Mucolipidoses / Q000150:complications* / Q000601:surgery*; D010288:Parenteral Nutrition; D012189:Retrospective Studies
keywords: Distrofia microvellositaria; Enfermedad por inclusiones microvellositarias; Fracaso intestinal; Intestinal failure; Intestinal transplantation; Microvillus dystrophy; Microvillus inclusion disease; Nutrición parenteral; Parenteral nutrition; Trasplante intestinal