Development of Nerve Fibre Diameter in Young Infants With Hirschsprung Disease

Lok, Maarten Janssen; Rassouli-Kirchmeier, R.; Köster, Nils; Küsters, Benno; Blaauw, Ivo de

doi:10.1097/mpg.0000000000001656

Cited by 3 publications

(1 citation statement)

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“…Increased AChE expression is associated with the hypertrophied extrinsic nerve fibres of the aganglionic segment in most patients with HSCR [13]. With AChE, false negatives are primarily related to age, and absence of an AChE reaction does not reliably exclude HSCR in very young neonates [13,14]. The sensitivity and specificity of other methods, including anorectal manometry and contrast enema are inferior to those of an adequate rectal biopsy, particularly in young infants [15,16].…”

Section: Level Of Evidence III Strength Of Recommendation: Strong Fomentioning

confidence: 99%

ERNICA guidelines for the management of rectosigmoid Hirschsprung’s disease

Kyrklund

Sloots

Blaauw

et al. 2020

Orphanet J Rare Dis

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Background: Hirschsprung's disease (HSCR) is a serious congenital bowel disorder with a prevalence of 1/5000. Currently, there is a lack of systematically developed guidelines to assist clinical decision-making regarding diagnostics and management. Aims: This guideline aims to cover the diagnostics and management of rectosigmoid HSCR up to adulthood. It aims to describe the preferred approach of ERNICA, the European Reference Network for rare inherited and congenital digestive disorders. Methods: Recommendations within key topics covering the care pathway for rectosigmoid HSCR were developed by an international workgroup of experts from 8 European countries within ERNICA European Reference Network from the disciplines of surgery, medicine, histopathology, microbiology, genetics, and patient organization representatives. Recommendation statements were based on a comprehensive review of the available literature and expert consensus. AGREE II and GRADE approaches were used during development. Evidence levels and levels of agreement are noted. Results: Thirty-three statements within 9 key areas were generated. Most recommendations were based on expert opinion. Conclusion: In rare or low-prevalence diseases such as HSCR, there remains limited availability of high-quality clinical evidence. Consensus-based guidelines for care are presented.

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Section: Level Of Evidence III Strength Of Recommendation: Strong Fomentioning

confidence: 99%