Ileal Crohn's disease in a woman with Hermansky-Pudlak syndrome |
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| Authors: | de Leusse Antoine Dupuy Evelyne Huizing Marjan Danel Claire Meyer Guy Jian Raymond Marteau Philippe |
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| Affiliation: | 1. Department of Pediatrics, BC Children''s Hospital, Child & Family Research Institute, University of British Columbia, Vancouver, BC, Canada;2. Pathology and Laboratory Medicine, BC Children''s Hospital, University of British Columbia, Vancouver, BC, Canada;3. Medical Genetics, Child & Family Research Institute, BC Children''s Hospital, University of British Columbia, Vancouver, BC, Canada;1. Department of Pediatric Immunology, School of Medicine, Erciyes University, Kayseri, Turkey;2. Medical Faculty, Department of Pediatric Intensive Care Unit, Erciyes University, Kayseri, Turkey;3. Medical Faculty, Department of Pediatric Radiology, Erciyes University, Kayseri, Turkey;4. Department of Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands;5. Medical Faculty, Department of Pediatric Nephrology, Erciyes University, Kayseri, Turkey |
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| Abstract: | ![]()
Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by oculocutaneous albinism and platelet dysfunction. A subset of patients also show ceroid deposition, which can result in pulmonary fibrosis or granulomatous colitis. Whether this colitis may be considered Crohn's disease is under debate. We report a case of a patient with HPS associated with inflammatory bowel disease which affected the distal small bowel but not the colon. Ileitis was severe, and recurred rapidly after surgery. Search for mutations in HPS1, ADTB3A, HPS3, HPS4 and for CARD15 were negative. Symptoms and ileal ulcerations which recurred after surgery were successfully treated with azathioprine and infliximab. |
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