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Inflammatory bowel disease in Shwachman-Diamond syndrome; is there an association?
Nissen, Loes H C; Stuurman, Kyra E; van der Feen, Cathelijne; Kemperman, Frits A; Pruijt, Johannes F M; de Jonge, Hendrik J M.
Afiliación
  • Nissen LHC; Department of Gastroenterology and Hepatology, Jeroen Bosch Ziekenhuis, Henri Dunantstraat 1, 5223 GZ, 's-Hertogenbosch, The Netherlands.
  • Stuurman KE; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.
  • van der Feen C; Department of Pediatrics, Jeroen Bosch Ziekenhuis, 's-Hertogenbosch, The Netherlands.
  • Kemperman FA; Department of Internal Medicine, Jeroen Bosch Ziekenhuis, 's-Hertogenbosch, The Netherlands.
  • Pruijt JFM; Department of Internal Medicine, Jeroen Bosch Ziekenhuis, 's-Hertogenbosch, The Netherlands.
  • de Jonge HJM; Department of Gastroenterology and Hepatology, Jeroen Bosch Ziekenhuis, Henri Dunantstraat 1, 5223 GZ, 's-Hertogenbosch, The Netherlands. Electronic address: hm.de.jonge@jbz.nl.
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.
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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

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