Chronic Megacolon Presenting in Adolescents or Adults: Clinical Manifestations, Diagnosis, and Genetic Associations

Xiao Jing Wang, Michael Camilleri

Research output: Contribution to journalReview article

1 Citation (Scopus)

Abstract

Objective: Chronic megacolon is rarely encountered in clinical practice beyond infancy or early childhood. Most cases are sporadic, and some are familial megacolon and present during adolescence or adulthood. There is a need for diagnostic criteria and identifying genetic variants reported in non-Hirschsprung’s megacolon. Methods: PubMed search was conducted using specific key words. Results: This article reviews the clinical manifestations, current diagnostic criteria, and intraluminal measurements of colonic compliance to confirm the diagnosis when the radiological imaging is not conclusive. Normal ranges of colonic compliance at 20, 30, and 44 mmHg distension are provided. The diverse genetic associations with chronic acquired megacolon beyond childhood are reviewed, including the potential association of SEMA3F gene in a family with megacolon. Conclusions: Measuring colonic compliance could be standardized and simplified by measuring volume at 20, 30, and 44 mmHg distension to identify megacolon when radiology is inconclusive. Diverse genetic associations with chronic acquired megacolon beyond childhood have been identified.

Original languageEnglish (US)
JournalDigestive Diseases and Sciences
DOIs
StatePublished - Jan 1 2019

Fingerprint

Megacolon
Compliance
PubMed
Radiology
Reference Values

Keywords

  • Congenital
  • Enteric nervous system
  • Hirschsprung
  • Megacolon

ASJC Scopus subject areas

  • Physiology
  • Gastroenterology

Cite this

@article{583dc232e80d4881a5e7be7bdfc715b9,
title = "Chronic Megacolon Presenting in Adolescents or Adults: Clinical Manifestations, Diagnosis, and Genetic Associations",
abstract = "Objective: Chronic megacolon is rarely encountered in clinical practice beyond infancy or early childhood. Most cases are sporadic, and some are familial megacolon and present during adolescence or adulthood. There is a need for diagnostic criteria and identifying genetic variants reported in non-Hirschsprung’s megacolon. Methods: PubMed search was conducted using specific key words. Results: This article reviews the clinical manifestations, current diagnostic criteria, and intraluminal measurements of colonic compliance to confirm the diagnosis when the radiological imaging is not conclusive. Normal ranges of colonic compliance at 20, 30, and 44 mmHg distension are provided. The diverse genetic associations with chronic acquired megacolon beyond childhood are reviewed, including the potential association of SEMA3F gene in a family with megacolon. Conclusions: Measuring colonic compliance could be standardized and simplified by measuring volume at 20, 30, and 44 mmHg distension to identify megacolon when radiology is inconclusive. Diverse genetic associations with chronic acquired megacolon beyond childhood have been identified.",
keywords = "Congenital, Enteric nervous system, Hirschsprung, Megacolon",
author = "Wang, {Xiao Jing} and Michael Camilleri",
year = "2019",
month = "1",
day = "1",
doi = "10.1007/s10620-019-05605-7",
language = "English (US)",
journal = "Digestive Diseases and Sciences",
issn = "0163-2116",
publisher = "Springer New York",

}

TY - JOUR

T1 - Chronic Megacolon Presenting in Adolescents or Adults

T2 - Clinical Manifestations, Diagnosis, and Genetic Associations

AU - Wang, Xiao Jing

AU - Camilleri, Michael

PY - 2019/1/1

Y1 - 2019/1/1

N2 - Objective: Chronic megacolon is rarely encountered in clinical practice beyond infancy or early childhood. Most cases are sporadic, and some are familial megacolon and present during adolescence or adulthood. There is a need for diagnostic criteria and identifying genetic variants reported in non-Hirschsprung’s megacolon. Methods: PubMed search was conducted using specific key words. Results: This article reviews the clinical manifestations, current diagnostic criteria, and intraluminal measurements of colonic compliance to confirm the diagnosis when the radiological imaging is not conclusive. Normal ranges of colonic compliance at 20, 30, and 44 mmHg distension are provided. The diverse genetic associations with chronic acquired megacolon beyond childhood are reviewed, including the potential association of SEMA3F gene in a family with megacolon. Conclusions: Measuring colonic compliance could be standardized and simplified by measuring volume at 20, 30, and 44 mmHg distension to identify megacolon when radiology is inconclusive. Diverse genetic associations with chronic acquired megacolon beyond childhood have been identified.

AB - Objective: Chronic megacolon is rarely encountered in clinical practice beyond infancy or early childhood. Most cases are sporadic, and some are familial megacolon and present during adolescence or adulthood. There is a need for diagnostic criteria and identifying genetic variants reported in non-Hirschsprung’s megacolon. Methods: PubMed search was conducted using specific key words. Results: This article reviews the clinical manifestations, current diagnostic criteria, and intraluminal measurements of colonic compliance to confirm the diagnosis when the radiological imaging is not conclusive. Normal ranges of colonic compliance at 20, 30, and 44 mmHg distension are provided. The diverse genetic associations with chronic acquired megacolon beyond childhood are reviewed, including the potential association of SEMA3F gene in a family with megacolon. Conclusions: Measuring colonic compliance could be standardized and simplified by measuring volume at 20, 30, and 44 mmHg distension to identify megacolon when radiology is inconclusive. Diverse genetic associations with chronic acquired megacolon beyond childhood have been identified.

KW - Congenital

KW - Enteric nervous system

KW - Hirschsprung

KW - Megacolon

UR - http://www.scopus.com/inward/record.url?scp=85064253194&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85064253194&partnerID=8YFLogxK

U2 - 10.1007/s10620-019-05605-7

DO - 10.1007/s10620-019-05605-7

M3 - Review article

C2 - 30953226

AN - SCOPUS:85064253194

JO - Digestive Diseases and Sciences

JF - Digestive Diseases and Sciences

SN - 0163-2116

ER -