Early onset inflammatory bowel diseases: Prevalence and clinical features

2017 ◽  
Vol 49 (4) ◽  
pp. e258
Author(s):  
M.A. Catena ◽  
V. Dipasquale ◽  
S. Gramaglia ◽  
C. Romano
2018 ◽  
Vol 97 (6) ◽  
pp. 141-146 ◽  
Author(s):  
A.E. Shchigoleva ◽  
◽  
P.V. Shumilov ◽  
А.Р. Shumilov ◽  
◽  
...  

2021 ◽  
Vol 22 (1) ◽  
Author(s):  
A. Angeletti ◽  
S. Arrigo ◽  
A. Madeo ◽  
M. Molteni ◽  
E. Vietti ◽  
...  

Abstract Background Inflammatory bowel diseases are characterized by chronic inflammation of the gastrointestinal tract. In particular, Crohn disease and ulcerative colitis represent the two most common types of clinical manifestations. Extraintestinal manifestations of inflammatory bowel diseases represent a common complications, probably reflecting the systemic inflammation. Renal involvement is reported in 4–23% of cases. However, available data are limited to few case series and retrospective analysis, therefore the real impact of renal involvement is not well defined. Case presentation We report the case of a 10-years old male affected by very early onset unclassified-Inflammatory bowel diseases since he was 1-year old, presenting with a flare of inflammatory bowel diseases associated with acute kidney injury due to granulomatous interstitial nephritis. Of interest, at 7-year-old, he was treated for IgA nephropathy. To our knowledge, no previous reports have described a relapse of renal manifestation in inflammatory bowel diseases, characterized by two different clinical and histological phenotypes. Conclusions The link between the onset of kidney injuries with flares of intestinal inflammation suggest that nephritis maybe considered an extra-intestinal manifestation correlated with active inflammatory bowel disease. However, if granulomatous interstitial nephritis represents a cell-mediated hypersensitivity reaction than a true extraintestinal manifestation of inflammatory bowel diseases is still not clarified. We suggest as these renal manifestations here described may be interpreted as extraintestinal disorder and also considered as systemic signal of under treatment of the intestinal disease.


2017 ◽  
Vol 49 (4) ◽  
pp. e257
Author(s):  
S. Accomando ◽  
M. Citrano ◽  
S. Valenti ◽  
F. Graziano ◽  
C. Romano

2018 ◽  
Vol 12 (9) ◽  
pp. 1104-1112 ◽  
Author(s):  
Fabienne Charbit-Henrion ◽  
Marianna Parlato ◽  
Sylvain Hanein ◽  
Rémi Duclaux-Loras ◽  
Jan Nowak ◽  
...  

Abstract Background and Aims An expanding number of monogenic defects have been identified as causative of severe forms of very early-onset inflammatory bowel diseases [VEO-IBD]. The present study aimed at defining how next-generation sequencing [NGS] methods can be used to improve identification of known molecular diagnosis and to adapt treatment. Methods A total of 207 children were recruited in 45 paediatric centres through an international collaborative network [ESPGHAN GENIUS working group] with a clinical presentation of severe VEO-IBD [n = 185] or an anamnesis suggestive of a monogenic disorder [n = 22]. Patients were divided at inclusion into three phenotypic subsets: predominantly small bowel inflammation, colitis with perianal lesions, and colitis only. Methods to obtain molecular diagnosis included functional tests followed by specific Sanger sequencing, custom-made targeted NGS, and in selected cases whole exome sequencing [WES] of parents-child trios. Genetic findings were validated clinically and/or functionally. Results Molecular diagnosis was achieved in 66/207 children [32%]: 61% with small bowel inflammation, 39% with colitis and perianal lesions, and 18% with colitis only. Targeted NGS pinpointed gene mutations causative of atypical presentations, and identified large exonic copy number variations previously missed by WES. Conclusions Our results lead us to propose an optimised diagnostic strategy to identify known monogenic causes of severe IBD.


2018 ◽  
Vol 154 (5) ◽  
pp. 1320-1333.e10 ◽  
Author(s):  
Mirna Šimurina ◽  
Noortje de Haan ◽  
Frano Vučković ◽  
Nicholas A. Kennedy ◽  
Jerko Štambuk ◽  
...  

2006 ◽  
Vol 12 (5) ◽  
pp. 355-361 ◽  
Author(s):  
Alessandro Ferraris ◽  
Barbara Torres ◽  
Daniela Knafelz ◽  
Arrigo Barabino ◽  
Paolo Lionetti ◽  
...  

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