Fracaso intestinal y trasplante en la enfermedad por inclusiones microvellositarias

  1. B. Fernández Caamaño
  2. M.J. Quiles Blanco
  3. L. Fernández Tomé
  4. E. Burgos Lizáldez
  5. J. Sarría Osés
  6. G. Prieto
  7. M. Molina Arias
Revista:
Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría ( AEP )

ISSN: 1695-4033 1696-4608

Ano de publicación: 2015

Volume: 83

Número: 3

Páxinas: 160-165

Tipo: Artigo

DOI: 10.1016/J.ANPEDI.2014.11.013 DIALNET GOOGLE SCHOLAR lock_openAcceso aberto editor

Outras publicacións en: Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría ( AEP )

Resumo

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.