Multiple monogenic disorders present as very early onset inflammatory bowel disease (VEO-IBD) or as IBD with severe and atypical features. Establishing a genetic diagnosis may change patients' management and prognosis. In this study, we describe the diagnostic approach to suspected monogenic IBD in a real clinical setting, discussing genetic and phenotypic findings and therapeutic implications of molecular diagnosis.

Diagnostic Approach to Monogenic Inflammatory Bowel Disease in Clinical Practice: A Ten-Year Multicentric Experience

Lega, Sara;Pin, Alessia;Girardelli, Martina;Bianco, Anna Monica;Tommasini, Alberto
;
Bramuzzo, Matteo
2020

Abstract

Multiple monogenic disorders present as very early onset inflammatory bowel disease (VEO-IBD) or as IBD with severe and atypical features. Establishing a genetic diagnosis may change patients' management and prognosis. In this study, we describe the diagnostic approach to suspected monogenic IBD in a real clinical setting, discussing genetic and phenotypic findings and therapeutic implications of molecular diagnosis.
3-ago-2019
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https://academic.oup.com/ibdjournal/article/26/5/720/5543289
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11368/2950419
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