Doença de Hirschsprung
Summary
Definition
History and exam
Key diagnostic factors
- vômitos
- passagem explosiva de fezes/gases
- distensão abdominal
- eliminação tardia de mecônio
- deficit no crescimento
- constipação crônica
Other diagnostic factors
- febre
- diarreia
- sangue nas fezes
- desconforto abdominal
- choque séptico
- perfuração cecal ou apendicular
- síndrome do tampão meconial
Risk factors
- Síndrome de Down
- sexo masculino
- história familiar
- Síndrome de Shan-Waardenburg
- Síndrome de Mowat-Wilson
- Síndrome de Haddad
- Neoplasia endócrina múltipla tipo 2 (NEM2)
Diagnostic tests
1st tests to order
- radiografia abdominal simples
- enema com contraste
Tests to consider
- biópsia retal
- manometria anorretal
Treatment algorithm
doença de segmento curto/segmento longo: sem enterocolite
doença de segmento curto/segmento longo: com enterocolite
aganglionose colônica total
Contributors
Authors
Lily S. Cheng, MD
Assistant Professor
University of Virginia
Charlottesville
VA
Disclosures
LSC is the co-author of a reference cited in this topic.
Kristy Lynn Rialon, MD
Associate Professor of Surgery
Division of Pediatric Surgery
Texas Children’s Hospital
Baylor College of Medicine
Houston
TX
Disclosures
KLR declares that she has no competing interests.
Acknowledgements
Dr Lily S. Cheng and Dr Kristy Lynn Rialon would like to gratefully acknowledge Dr Andrea Bischoff and Dr Alberto Peña, the previous contributors to this topic. AB and AP are co-authors of several references cited in this topic.
Peer reviewers
Ivo de Blaauw, MD, PHD
Pediatric Surgeon
Radboud University Nijmegen
Academic Medical Center
Nijmegen
Netherlands
Disclosures
IdB declares that he has no competing interests.
Jose Manuel Tovilla, MD
Colorectal Pediatric Surgeon
Chief of the Colorectal Clinic
Hospital Infantil de Mexico Federico Gomez
Mexico
Disclosures
JMT declares that he has no competing interests.
Daniel P. Doody, MD
Pediatric Surgeon
Department of Pediatric Surgery
Massachusetts General Hospital
Boston
MA
Disclosures
DPD declares that he has no competing interests.
Peer reviewer acknowledgements
BMJ Best Practice topics are updated on a rolling basis in line with developments in evidence and guidance. The peer reviewers listed here have reviewed the content at least once during the history of the topic.
Disclosures
Peer reviewer affiliations and disclosures pertain to the time of the review.
References
Key articles
Montalva L, Cheng LS, Kapur R, et al. Hirschsprung disease. Nat Rev Dis Primers. 2023 Oct 12;9(1):54. Abstract
Kawaguchi AL, Guner YS, Sømme S, et al. Management and outcomes for long-segment Hirschsprung disease: a systematic review from the APSA outcomes and evidence based practice committee. J Pediatr Surg. 2021 Sep;56(9):1513-23.Full text Abstract
Gosain A, Frykman PK, Cowles RA, et al. Guidelines for the diagnosis and management of Hirschsprung-associated enterocolitis. Pediatr Surg Int. 2017 May;33(5):517-21.Full text Abstract
Kyrklund K, Sloots CEJ, de Blaauw I, et al. ERNICA guidelines for the management of rectosigmoid Hirschsprung's disease. Orphanet J Rare Dis. 2020 Jun 25;15(1):164.Full text Abstract
Granström AL, Irvine W, Hoel AT, et al. Ernica clinical consensus statements on total colonic and intestinal aganglionosis. J Pediatr Surg. 2024 Oct;59(10):161565.Full text Abstract
Reference articles
A full list of sources referenced in this topic is available to users with access to all of BMJ Best Practice.
Differentials
- Síndrome do tampão meconial
- Fibrose cística (íleo meconial)
- Síndrome do cólon esquerdo curto
More DifferentialsGuidelines
- ERNICA clinical consensus statements on total colonic and intestinal aganglionosis
- Management and outcomes for long-segment Hirschsprung disease: a systematic review from the APSA outcomes and evidence based practice committee
More Guidelines
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