Lama, Yago Gonzalez*
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The majority of patients with Crohn's disease and a proportion of patients with ulcerative colitis will ultimately require surgical treatment despite advances in diagnosis, therapy, and endoscopic interventions. The surgical procedures that are most commonly done include bowel resection with anastomosis, strictureplasty, faecal diversion, and ileal pouch. These surgical treatment modalities result in substantial alterations in bowel anatomy. In patients with inflammatory bowel disease, endoscopy plays a key role in the assessment of disease activity, disease recurrence, treatment response, dysplasia surveillance, and delivery of endoscopic therapy. Endoscopic evaluation and management of surgically altered bowel can be challenging. This consensus guideline delineates anatomical landmarks and endoscopic assessment of these landmarks in diseased and surgically altered bowel.
- MeSH
- anastomóza chirurgická metody MeSH
- anatomická značka diagnostické zobrazování MeSH
- chirurgie trávicího traktu škodlivé účinky MeSH
- Crohnova nemoc diagnóza chirurgie MeSH
- dospělí MeSH
- endoskopie metody MeSH
- idiopatické střevní záněty chirurgie MeSH
- konsensus MeSH
- lidé středního věku MeSH
- lidé MeSH
- pouch škodlivé účinky MeSH
- proktokolektomie rekonstrukční metody MeSH
- recidiva MeSH
- směrnice pro lékařskou praxi jako téma MeSH
- stenóza chirurgie MeSH
- střeva anatomie a histologie patologie chirurgie MeSH
- stupeň závažnosti nemoci MeSH
- ulcerózní kolitida diagnóza chirurgie MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- přehledy MeSH
- Research Support, N.I.H., Extramural MeSH
Stricture formation is a common complication of Crohn's disease, resulting from the disease process, surgery, or drugs. Endoscopic balloon dilation has an important role in the management of strictures, with emerging techniques, such as endoscopic electroincision and stenting, showing promising results. The underlying disease process, altered bowel anatomy from disease or surgery, and concurrent use of immunosuppressive drugs can make endoscopic procedures more challenging. There is an urgent need for the standardisation of endoscopic procedures and peri-procedural management strategies. On the basis of an extensive literature review and the clinical experience of the consensus group, which consisted of representatives from the Interventional Inflammatory Bowel Disease Group, we propose detailed guidance on all aspects of the principles and techniques for endoscopic procedures in the treatment of inflammatory bowel disease-associated strictures.
- MeSH
- Crohnova nemoc komplikace diagnostické zobrazování epidemiologie patologie MeSH
- dilatace přístrojové vybavení MeSH
- gastrointestinální endoskopie metody MeSH
- hodnocení výsledků zdravotní péče MeSH
- idiopatické střevní záněty komplikace terapie MeSH
- imunosupresiva škodlivé účinky MeSH
- konsensus MeSH
- lidé MeSH
- přežití bez známek nemoci MeSH
- rizikové faktory MeSH
- směrnice pro lékařskou praxi jako téma MeSH
- stenóza etiologie patologie terapie MeSH
- stenty škodlivé účinky MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- přehledy MeSH
- Research Support, N.I.H., Extramural MeSH
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.
- MeSH
- dítě MeSH
- idiopatické střevní záněty diagnóza etiologie terapie MeSH
- kohortové studie MeSH
- kojenec MeSH
- lidé MeSH
- mladiství MeSH
- prediktivní hodnota testů MeSH
- předškolní dítě MeSH
- věk při počátku nemoci MeSH
- vysoce účinné nukleotidové sekvenování * MeSH
- Check Tag
- dítě MeSH
- kojenec MeSH
- lidé MeSH
- mladiství MeSH
- mužské pohlaví MeSH
- předškolní dítě MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- multicentrická studie MeSH
