[Intestinal failure and transplantation in microvillous inclusion disease]

An Pediatr (Barc). 2015 Sep;83(3):160-5. doi: 10.1016/j.anpedi.2014.11.013. Epub 2014 Dec 26.
[Article in Spanish]

Abstract

Introduction: 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.

Patients and 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.

Keywords: Distrofia microvellositaria; Enfermedad por inclusiones microvellositarias; Fracaso intestinal; Intestinal failure; Intestinal transplantation; Microvillus dystrophy; Microvillus inclusion disease; Nutrición parenteral; Parenteral nutrition; Trasplante intestinal.

MeSH terms

  • Female
  • Humans
  • Infant, Newborn
  • Intestinal Diseases / etiology
  • Intestines / transplantation*
  • Malabsorption Syndromes / complications*
  • Malabsorption Syndromes / surgery*
  • Male
  • Microvilli / pathology*
  • Mucolipidoses / complications*
  • Mucolipidoses / surgery*
  • Parenteral Nutrition
  • Retrospective Studies

Supplementary concepts

  • Microvillus inclusion disease