Shwachman-Diamond syndrome with autoimmune-like liver disease and enteropathy mimicking celiac disease.
Clin Res Hepatol Gastroenterol
; 39(1): e1-4, 2015 Feb.
Article
en En
| MEDLINE
| ID: mdl-25129842
Liver abnormalities that normalize during infancy as well an enteropathy are reported in Shwachman-Diamond syndrome (SDS). The pathogenesis of both conditions is unknown. We report two SDS cases with autoimmune-like (antismooth muscle and/or antinuclear antibody positivity) liver disease and antigliadin antibody positive inflammatory enteropathy. Hypertransaminasemia did not resolve after immunosuppressive therapy and/or a gluten-free diet. These transient autoimmune phenomena and gut-liver axis perturbations may have played a role in transient SDS hepatopathy and enteropathy. Our report may stimulate other studies to define the relationship between the SDS genetic defect and intestinal permeability as the pathogenic mechanism underlying SDS related liver and intestinal inflammation.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Insuficiencia Pancreática Exocrina
/
Enfermedades de la Médula Ósea
/
Enfermedad Celíaca
/
Hepatitis Autoinmune
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Enfermedades Intestinales
/
Lipomatosis
Tipo de estudio:
Diagnostic_studies
Límite:
Female
/
Humans
/
Infant
Idioma:
En
Revista:
Clin Res Hepatol Gastroenterol
Año:
2015
Tipo del documento:
Article
Pais de publicación:
Francia