Inflammatory bowel disease in Shwachman-Diamond syndrome; is there an association?
Clin Res Hepatol Gastroenterol
; 44(1): e10-e13, 2020 02.
Article
en En
| MEDLINE
| ID: mdl-31196706
ABSTRACT
Shwachman-Diamond syndrome (SDS) is a rare autosomal recessive disease characterized by exocrine pancreatic insufficiency with malabsorption, malnutrition, growth failure and bone marrow failure. Furthermore, duodenal inflammatory enteropathy features may be present. For the first time, we report here a SDS case that is also diagnosed with inflammatory bowel disease (IBD). He was diagnosed with SDS at the age of two based on poor growth, severe exocrine pancreatic insufficiency with steatorrhea, neutropenia, recurrent infections and thoracic skeletal abnormalities. Ileocolonoscopy and histopathology revealed colonic Crohn's disease at the age of sixteen. Our report may encourage further studies elucidating the possible association between the SDS genetic defect and inflammatory bowel disease.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Asunto principal:
Enfermedades Inflamatorias del Intestino
/
Síndrome de Shwachman-Diamond
Tipo de estudio:
Risk_factors_studies
Límite:
Adult
/
Humans
/
Male
Idioma:
En
Revista:
Clin Res Hepatol Gastroenterol
Año:
2020
Tipo del documento:
Article
País de afiliación:
Países Bajos