Fracaso intestinal y trasplante en la enfermedad por inclusiones microvellositarias
- B. Fernández Caamaño
- M.J. Quiles Blanco
- L. Fernández Tomé
- E. Burgos Lizáldez
- J. Sarría Osés
- G. Prieto
- M. Molina Arias
ISSN: 1695-4033, 1696-4608
Year of publication: 2015
Volume: 83
Issue: 3
Pages: 160-165
Type: Article
More publications in: Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría ( AEP )
Abstract
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.