Novel classification and pathogenetic analysis of hypoganglionosis and adult-onset Hirschsprung's disease

Mi Young Do, Seung Jae Myung, HyoJin Park, Jun Won Chung, In Wha Kim, Sun Mi Lee, Chang Sik Yu, Hye Kyung Lee, Jong Keuk Lee, Young Soo Park, Se Jin Jang, Hye Jin Kim, Byong Duk Ye, Jeong Sik Byeon, Suk Kyun Yang, Jin Ho Kim

Research output: Contribution to journalArticle

23 Citations (Scopus)

Abstract

Background and Aims: Researchers have not clearly described the clinical and pathogenetic features of hypoganglionosis and adult-onset Hirschsprung's disease, which cause pseudo-obstruction or intractable constipation. We conducted this study to explore these features of hypoganglionosis and adult-onset Hirschsprung's disease in Korean patients. Methods: We enrolled 24 patients pathologically confirmed as having hypoganglionosis and 11 as having adult-onset Hirschsprung's disease. We recruited 26 subjects who had undergone operation for nonobstructive colon cancer and 45 healthy volunteers as controls. We described their clinical features, investigated ganglion cells and interstitial cells of Cajal (ICC), and analyzed RET, EDNRB, EDN3, and SOX10 genes. Results: We classified hypoganglionosis patients into two groups: type I (focal type, n = 13), with focally narrowed transition zone (TZ); and type II (diffuse type, n = 11), without transition zone. Hypoganglionosis patients had significantly fewer ganglion cells than the controls, and those cells were scarcer in the transition zone than in the proximal dilated area (P < 0.05). The ICC numbers in both diseases were significantly lower than in controls; however, they were similar between transition zone and the proximal dilated area in hypoganglionosis. In adult-onset Hirschsprung's disease, two significant intronic RET polymorphic variants, IVS14-24G>A and IVS19+47T>C, were significantly associated with adult-onset Hirschsprung's disease (P = 0.0122 and 0.0295, respectively), but not with hypoganglionosis. Conclusions: Hypoganglionosis and adult-onset Hirschsprung's disease have different pathophysiologic characteristics, although their clinical presentations are similar. We suggest that there are two subgroups of hypoganglionosis: those with or without a focally narrowed transition zone with a profoundly diminished number of ganglion cells.

Original languageEnglish
Pages (from-to)1818-1827
Number of pages10
JournalDigestive diseases and sciences
Volume56
Issue number6
DOIs
Publication statusPublished - 2011 Jun 1

Fingerprint

Hirschsprung Disease
Ganglia
Interstitial Cells of Cajal
Constipation
Colonic Neoplasms
Healthy Volunteers
Cell Count
Research Personnel
Genes

All Science Journal Classification (ASJC) codes

  • Physiology
  • Gastroenterology

Cite this

Do, Mi Young ; Myung, Seung Jae ; Park, HyoJin ; Chung, Jun Won ; Kim, In Wha ; Lee, Sun Mi ; Yu, Chang Sik ; Lee, Hye Kyung ; Lee, Jong Keuk ; Park, Young Soo ; Jang, Se Jin ; Kim, Hye Jin ; Ye, Byong Duk ; Byeon, Jeong Sik ; Yang, Suk Kyun ; Kim, Jin Ho. / Novel classification and pathogenetic analysis of hypoganglionosis and adult-onset Hirschsprung's disease. In: Digestive diseases and sciences. 2011 ; Vol. 56, No. 6. pp. 1818-1827.
@article{bcd3ee494eea4ed5bda142b9b64fcb5e,
title = "Novel classification and pathogenetic analysis of hypoganglionosis and adult-onset Hirschsprung's disease",
abstract = "Background and Aims: Researchers have not clearly described the clinical and pathogenetic features of hypoganglionosis and adult-onset Hirschsprung's disease, which cause pseudo-obstruction or intractable constipation. We conducted this study to explore these features of hypoganglionosis and adult-onset Hirschsprung's disease in Korean patients. Methods: We enrolled 24 patients pathologically confirmed as having hypoganglionosis and 11 as having adult-onset Hirschsprung's disease. We recruited 26 subjects who had undergone operation for nonobstructive colon cancer and 45 healthy volunteers as controls. We described their clinical features, investigated ganglion cells and interstitial cells of Cajal (ICC), and analyzed RET, EDNRB, EDN3, and SOX10 genes. Results: We classified hypoganglionosis patients into two groups: type I (focal type, n = 13), with focally narrowed transition zone (TZ); and type II (diffuse type, n = 11), without transition zone. Hypoganglionosis patients had significantly fewer ganglion cells than the controls, and those cells were scarcer in the transition zone than in the proximal dilated area (P < 0.05). The ICC numbers in both diseases were significantly lower than in controls; however, they were similar between transition zone and the proximal dilated area in hypoganglionosis. In adult-onset Hirschsprung's disease, two significant intronic RET polymorphic variants, IVS14-24G>A and IVS19+47T>C, were significantly associated with adult-onset Hirschsprung's disease (P = 0.0122 and 0.0295, respectively), but not with hypoganglionosis. Conclusions: Hypoganglionosis and adult-onset Hirschsprung's disease have different pathophysiologic characteristics, although their clinical presentations are similar. We suggest that there are two subgroups of hypoganglionosis: those with or without a focally narrowed transition zone with a profoundly diminished number of ganglion cells.",
author = "Do, {Mi Young} and Myung, {Seung Jae} and HyoJin Park and Chung, {Jun Won} and Kim, {In Wha} and Lee, {Sun Mi} and Yu, {Chang Sik} and Lee, {Hye Kyung} and Lee, {Jong Keuk} and Park, {Young Soo} and Jang, {Se Jin} and Kim, {Hye Jin} and Ye, {Byong Duk} and Byeon, {Jeong Sik} and Yang, {Suk Kyun} and Kim, {Jin Ho}",
year = "2011",
month = "6",
day = "1",
doi = "10.1007/s10620-010-1522-9",
language = "English",
volume = "56",
pages = "1818--1827",
journal = "American Journal of Digestive Diseases",
issn = "0002-9211",
publisher = "Springer New York",
number = "6",

}

Do, MY, Myung, SJ, Park, H, Chung, JW, Kim, IW, Lee, SM, Yu, CS, Lee, HK, Lee, JK, Park, YS, Jang, SJ, Kim, HJ, Ye, BD, Byeon, JS, Yang, SK & Kim, JH 2011, 'Novel classification and pathogenetic analysis of hypoganglionosis and adult-onset Hirschsprung's disease', Digestive diseases and sciences, vol. 56, no. 6, pp. 1818-1827. https://doi.org/10.1007/s10620-010-1522-9

Novel classification and pathogenetic analysis of hypoganglionosis and adult-onset Hirschsprung's disease. / Do, Mi Young; Myung, Seung Jae; Park, HyoJin; Chung, Jun Won; Kim, In Wha; Lee, Sun Mi; Yu, Chang Sik; Lee, Hye Kyung; Lee, Jong Keuk; Park, Young Soo; Jang, Se Jin; Kim, Hye Jin; Ye, Byong Duk; Byeon, Jeong Sik; Yang, Suk Kyun; Kim, Jin Ho.

In: Digestive diseases and sciences, Vol. 56, No. 6, 01.06.2011, p. 1818-1827.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Novel classification and pathogenetic analysis of hypoganglionosis and adult-onset Hirschsprung's disease

AU - Do, Mi Young

AU - Myung, Seung Jae

AU - Park, HyoJin

AU - Chung, Jun Won

AU - Kim, In Wha

AU - Lee, Sun Mi

AU - Yu, Chang Sik

AU - Lee, Hye Kyung

AU - Lee, Jong Keuk

AU - Park, Young Soo

AU - Jang, Se Jin

AU - Kim, Hye Jin

AU - Ye, Byong Duk

AU - Byeon, Jeong Sik

AU - Yang, Suk Kyun

AU - Kim, Jin Ho

PY - 2011/6/1

Y1 - 2011/6/1

N2 - Background and Aims: Researchers have not clearly described the clinical and pathogenetic features of hypoganglionosis and adult-onset Hirschsprung's disease, which cause pseudo-obstruction or intractable constipation. We conducted this study to explore these features of hypoganglionosis and adult-onset Hirschsprung's disease in Korean patients. Methods: We enrolled 24 patients pathologically confirmed as having hypoganglionosis and 11 as having adult-onset Hirschsprung's disease. We recruited 26 subjects who had undergone operation for nonobstructive colon cancer and 45 healthy volunteers as controls. We described their clinical features, investigated ganglion cells and interstitial cells of Cajal (ICC), and analyzed RET, EDNRB, EDN3, and SOX10 genes. Results: We classified hypoganglionosis patients into two groups: type I (focal type, n = 13), with focally narrowed transition zone (TZ); and type II (diffuse type, n = 11), without transition zone. Hypoganglionosis patients had significantly fewer ganglion cells than the controls, and those cells were scarcer in the transition zone than in the proximal dilated area (P < 0.05). The ICC numbers in both diseases were significantly lower than in controls; however, they were similar between transition zone and the proximal dilated area in hypoganglionosis. In adult-onset Hirschsprung's disease, two significant intronic RET polymorphic variants, IVS14-24G>A and IVS19+47T>C, were significantly associated with adult-onset Hirschsprung's disease (P = 0.0122 and 0.0295, respectively), but not with hypoganglionosis. Conclusions: Hypoganglionosis and adult-onset Hirschsprung's disease have different pathophysiologic characteristics, although their clinical presentations are similar. We suggest that there are two subgroups of hypoganglionosis: those with or without a focally narrowed transition zone with a profoundly diminished number of ganglion cells.

AB - Background and Aims: Researchers have not clearly described the clinical and pathogenetic features of hypoganglionosis and adult-onset Hirschsprung's disease, which cause pseudo-obstruction or intractable constipation. We conducted this study to explore these features of hypoganglionosis and adult-onset Hirschsprung's disease in Korean patients. Methods: We enrolled 24 patients pathologically confirmed as having hypoganglionosis and 11 as having adult-onset Hirschsprung's disease. We recruited 26 subjects who had undergone operation for nonobstructive colon cancer and 45 healthy volunteers as controls. We described their clinical features, investigated ganglion cells and interstitial cells of Cajal (ICC), and analyzed RET, EDNRB, EDN3, and SOX10 genes. Results: We classified hypoganglionosis patients into two groups: type I (focal type, n = 13), with focally narrowed transition zone (TZ); and type II (diffuse type, n = 11), without transition zone. Hypoganglionosis patients had significantly fewer ganglion cells than the controls, and those cells were scarcer in the transition zone than in the proximal dilated area (P < 0.05). The ICC numbers in both diseases were significantly lower than in controls; however, they were similar between transition zone and the proximal dilated area in hypoganglionosis. In adult-onset Hirschsprung's disease, two significant intronic RET polymorphic variants, IVS14-24G>A and IVS19+47T>C, were significantly associated with adult-onset Hirschsprung's disease (P = 0.0122 and 0.0295, respectively), but not with hypoganglionosis. Conclusions: Hypoganglionosis and adult-onset Hirschsprung's disease have different pathophysiologic characteristics, although their clinical presentations are similar. We suggest that there are two subgroups of hypoganglionosis: those with or without a focally narrowed transition zone with a profoundly diminished number of ganglion cells.

UR - http://www.scopus.com/inward/record.url?scp=79959717295&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=79959717295&partnerID=8YFLogxK

U2 - 10.1007/s10620-010-1522-9

DO - 10.1007/s10620-010-1522-9

M3 - Article

VL - 56

SP - 1818

EP - 1827

JO - American Journal of Digestive Diseases

JF - American Journal of Digestive Diseases

SN - 0002-9211

IS - 6

ER -