Granulomatous Colitis Due to Hermansky-Pudlak Syndrome.

Autor: Koulali H; Department of Hepato-Gastroenterology, Mohammed VI University Hospital, Oujda, Morocco.; Digestive Diseases Research Laboratory (DSRL), Faculty of Medicine and Pharmacy, Mohammed First University, Oujda, Morocco., Azzmouri S; Department of Hepato-Gastroenterology, Mohammed VI University Hospital, Oujda, Morocco.; Digestive Diseases Research Laboratory (DSRL), Faculty of Medicine and Pharmacy, Mohammed First University, Oujda, Morocco., Tajir M; Laboratoire de Génétique Médicale, Laboratoire Central, Centre Hospitalo-Universitaire Mohammed VI, Faculté de Médecine et de Pharmacie d'Oujda, Université Mohammed Premier, Oujda, Morocco., Zerrouki K; Laboratoire de Génétique Médicale, Laboratoire Central, Centre Hospitalo-Universitaire Mohammed VI, Faculté de Médecine et de Pharmacie d'Oujda, Université Mohammed Premier, Oujda, Morocco., Haloui A; Department of Pathology, Mohammed VI University Hospital/Faculty of Medicine, Mohammed 1st University, Oujda, Morocco., Elmqaddem O; Department of Hepato-Gastroenterology, Mohammed VI University Hospital, Oujda, Morocco.; Digestive Diseases Research Laboratory (DSRL), Faculty of Medicine and Pharmacy, Mohammed First University, Oujda, Morocco., Zazour A; Department of Hepato-Gastroenterology, Mohammed VI University Hospital, Oujda, Morocco.; Digestive Diseases Research Laboratory (DSRL), Faculty of Medicine and Pharmacy, Mohammed First University, Oujda, Morocco., Ismaili Z; Department of Hepato-Gastroenterology, Mohammed VI University Hospital, Oujda, Morocco.; Digestive Diseases Research Laboratory (DSRL), Faculty of Medicine and Pharmacy, Mohammed First University, Oujda, Morocco., Kharrasse G; Department of Hepato-Gastroenterology, Mohammed VI University Hospital, Oujda, Morocco.; Digestive Diseases Research Laboratory (DSRL), Faculty of Medicine and Pharmacy, Mohammed First University, Oujda, Morocco.
Jazyk: angličtina
Zdroj: ACG case reports journal [ACG Case Rep J] 2024 Oct 31; Vol. 11 (11), pp. e01477. Date of Electronic Publication: 2024 Oct 31 (Print Publication: 2024).
DOI: 10.14309/crj.0000000000001477
Abstrakt: Hermansky-Pudlak syndrome (HPS) is a rare genetic disorder characterized by oculocutaneous albinism, bleeding diathesis, and multiorgan involvement. Granulomatous enterocolitis may occur in a subset of patients. Distinguishing HPS from other diseases such as Crohn's disease can be challenging, and managing HPS-associated colitis is complex. Recent reports suggest potential efficacy of infliximab in treating HPS-related granulomatous colitis. Here, we document the case of a 27-year-old patient with genetically confirmed HPS type 1, presenting with granulomatous colitis and successfully treated with corticosteroids and infliximab.
(© 2024 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of The American College of Gastroenterology.)
Databáze: MEDLINE
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