التفاصيل البيبلوغرافية
| العنوان: |
Inflammatory Bowel Disease in Patients with Congenital Chloride Diarrhoea |
| المؤلفون: |
Norsa, Lorenzo, Berni Canani, Roberto, Duclaux-Loras, Remi, Bequet, Emeline, Köglmeier, Jutta, Russell, Richard K., Uhlig, Holm H., Travis, Simon, Hollis, Jennifer, Koletzko, Sibylle, Grimaldi, Giusi, Castaldo, Giuseppe, Rodrigues, Astor, Deflandre, Jaques, Dembinski, Lukasz, Shah, Neil, Heinz-Erian, Peter, Janecke, Andreas, Leskinen, Saara, Wedenoja, Satu, Koskela, Ritva, Lachaux, Alain, Kolho, Kaija Leena, Ruemmele, Frank M. |
| المساهمون: |
HUS Gynecology and Obstetrics, University of Helsinki, Department of Obstetrics and Gynecology, Clinicum, Children's Hospital, HUS Children and Adolescents |
| بيانات النشر: |
Oxford University Press |
| سنة النشر: |
2022 |
| المجموعة: |
Helsingfors Universitet: HELDA – Helsingin yliopiston digitaalinen arkisto |
| مصطلحات موضوعية: |
3121 General medicine, internal medicine and other clinical medicine, congenital chloride diarrhoea, Crohn's disease, monogenic disease, SLC26A3, ulcerative colitis, REDUCES EXPRESSION, TUMOR-NECROSIS-FACTOR, DRA, GENE, COLITIS, ALKALOSIS, ADENOMA, MICE, MUTATIONS |
| الوصف: |
Background: Congenital chloride diarrhoea [CLD] is a rare autosomal recessive disease caused by mutations in the solute family carrier 26 member 3 [SLC26A3] gene. Patients suffer from life-long watery diarrhoea and chloride loss. Inflammatory bowel disease [IBD] has been reported in individual patients with CLD and in scl26a3-deficient mice. Methods: We performed an international multicentre analysis to build a CLD cohort and to identify cases with IBD. We assessed clinical and genetic characteristics of subjects and studied the cumulative incidence of CLD-associated IBD. Results: In a cohort of 72 patients with CLD caused by 17 different SLC26A3 mutations, we identified 12 patients [17%] diagnosed with IBD. Nine patients had Crohn's disease, two ulcerative colitis and one IBD-unclassified [IBD-U]. The prevalence of IBD in our cohort of CLD was higher than the highest prevalence of IBD in Europe [p < 0.0001]. The age of onset was variable [13.5 years, interquartile range: 8.5-23.5 years]. Patients with CLD and IBD had lower z-score for height than those without IBD. Four of 12 patients had required surgery [ileostomy formation n = 2, ileocaecal resection due to ileocaecal valve stenosis n = 1 and colectomy due to stage II transverse colon cancer n = 1]. At last follow-up, 5/12 were on biologics [adalimumab, infliximab or vedolizumab], 5/12 on immunosuppressants [azathioprine or mercaptopurine], one on 5-ASA and one off-treatment. Conclusions: A substantial proportion of patients with CLD develop IBD. This suggests the potential involvement of SL26A3-mediated anion transport in IBD pathogenesis. Patients with CLD-associated IBD may require surgery for treatment failure or colon cancer. ; Peer reviewed |
| نوع الوثيقة: |
article in journal/newspaper |
| وصف الملف: |
application/pdf |
| اللغة: |
English |
| العلاقة: |
Norsa , L , Berni Canani , R , Duclaux-Loras , R , Bequet , E , Köglmeier , J , Russell , R K , Uhlig , H H , Travis , S , Hollis , J , Koletzko , S , Grimaldi , G , Castaldo , G , Rodrigues , A , Deflandre , J , Dembinski , L , Shah , N , Heinz-Erian , P , Janecke , A , Leskinen , S , Wedenoja , S , Koskela , R , Lachaux , A , Kolho , K L & Ruemmele , F M 2021 , ' Inflammatory Bowel Disease in Patients with Congenital Chloride Diarrhoea ' , Journal of Crohn's and Colitis , vol. 15 , no. 10 , pp. 1679-1685 . https://doi.org/10.1093/ecco-jcc/jjab056Test; ORCID: /0000-0003-0212-4851/work/104209903; ORCID: /0000-0001-9170-8415/work/104212300; 85118283616; 23ce510b-53ac-42e6-ac99-7f260ba32374; http://hdl.handle.net/10138/342065Test; 000711392000007 |
| الإتاحة: |
http://hdl.handle.net/10138/342065Test |
| حقوق: |
openAccess ; info:eu-repo/semantics/openAccess |
| رقم الانضمام: |
edsbas.95C5E241 |
| قاعدة البيانات: |
BASE |
