P905 Predictive pharmacogenetic risk of pancreatitis in Inflammatory Bowel Disease patients treated with thiopurines: a case-control study from the ENEIDA registry
نویسندگان
چکیده
Abstract Background Treatment with thiopurines may be associated different adverse effects, including acute pancreatitis. Risk factors for developing pancreatitis due to in patients Inflammatory Bowel Disease (IBD) are not clearly identified, underlying genetic predisposition being a possible cause. Our aim was evaluate predictive pharmacogenetic risk of IBD treated thiopurines. Methods were identified from the prospectively maintained ENEIDA registry Spanish Working Group on Crohn's and Ulcerative Colitis (GETECCU). We included as cases those who met Atlanta diagnostic criteria had an imaging test that ruled out biliary origin. controls without after at least two years treatment Blood samples collected, DNA extracted leukocytes all participants and, subsequently, pooled sequenced. Sequencing panel genes (CASR, CEL, CDLN2, CFTR, CPA1, CTRC, PRSS1, SPINK1) carried NextSeq500 platform. Variants detected classified pathogenic, variants unknown significance, benign according American College Medical Genetics Genomics (ACMGG) guidelines. Results Ninety-five 105 enrolled, 57% women. Pancreatitis diagnosed median age 39±13 old. No patient previous history chronic or There no differences between thiopurine-treated age, sex, onset. 81 (50 67 controls) total 35 distinct rare pathogenic significance (10 21 1 3 CPA1). Of these (12 18 controls), 6 (1 5 belonging CEL CFTR genes, 30 uncertain (21 22 controls). significant groups controls, both totals by genes. None pancreatitis-predisposing within CASR, SPINK1 analysed mutation. Four CDLN CPA1 One them gene single pancreatitis, control individuals. Conclusion In IBD, there is thiopurine-induced known cause
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15 صفحه اولInfluence of NUDT15 variants on hematological pictures of patients with inflammatory bowel disease treated with thiopurines
AIM The single nucleotide polymorphism (SNP) c.415C>T in exon 3 of NUDT15 affects thiopurine-induced leukopenia in Asian patients with Crohn's disease. Meanwhile, three additional genetic variants of NUDT15 were reported in patients with acute lymphoblastic leukemia. We evaluated the effects of these additional genetic variants of NUDT15 in patients with inflammatory bowel disease (IBD) treated...
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The use of thiopurines as immunosuppression for the treatment of refractory or chronic active inflammatory bowel disease is established for both Crohn's disease and ulcerative colitis. Nevertheless, many questions remain concerning the optimal treatment regimens of azathioprine, 6-mercaptopurine and thioguanine. We will briefly summarize dose recommendations, indications for thiopurine therapy ...
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ژورنال
عنوان ژورنال: Journal of Crohn's and Colitis
سال: 2023
ISSN: ['1876-4479', '1873-9946']
DOI: https://doi.org/10.1093/ecco-jcc/jjac190.1035