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

Digestive Diseases and Sciences

Volumn 56, Issue 6, 2011, Pages 1818-1827

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

^a University of Ulsan College of Medicine   (South Korea)

^b Yonsei University College of Medicine   (South Korea)

^c Inha University School of Medicine   (South Korea)

^d Asan Medical Center   (South Korea)

Author keywords

Adult onset Hirschsprung's disease; Ganglion cell; Hypoganglionosis; Interstitial cells of Cajal; Intractable constipation; Pseudo obstruction

Indexed keywords

EDN3 PROTEIN; EDNRB PROTEIN; ENDOTHELIN RECEPTOR; PROTEIN RET; TRANSCRIPTION FACTOR SOX10; UNCLASSIFIED DRUG;

ABDOMINAL PAIN; ADULT; ADULT ONSET HIRSCHSPRUNG DISEASE; ARTICLE; CELL COUNT; CLINICAL ARTICLE; CLINICAL FEATURE; COLON AGANGLIONOSIS; COLON CANCER; COLON SURGERY; CONSTIPATION; CONTROLLED STUDY; DISEASE CLASSIFICATION; FEMALE; GENETIC ASSOCIATION; GENETIC VARIABILITY; HIRSCHSPRUNG DISEASE; HISTOPATHOLOGY; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPOGANGLIONOSIS; INTERSTITIAL CELL OF CAJAL; MALE; NERVE CELL; PATHOGENESIS; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; TISSUE SECTION;

ADOLESCENT; ADULT; AGED; CHILD; COLON; FEMALE; GANGLIA, AUTONOMIC; GENE EXPRESSION REGULATION; HIRSCHSPRUNG DISEASE; HUMANS; MALE; MIDDLE AGED; MUTATION; MYENTERIC PLEXUS; POLYMORPHISM, GENETIC; PROTO-ONCOGENE PROTEINS C-RET; YOUNG ADULT;

EID: 79959717295     PISSN: 01632116     EISSN: 15732568     Source Type: Journal    
DOI: 10.1007/s10620-010-1522-9     Document Type: Article

References (31)

1. De Giorgio R, Sarnelli G, Corinaldesi R, et al. Advances in our understanding of the pathology of chronic intestinal pseudo-obstruction. Gut. 2004;53:1549-1552. (Pubitemid 39434089)
2. De Giorgio R, Camilleri M. Human enteric neuropathies: morphology and molecular pathology. Neurogastroenterol Motil. 2004;16:515-531. (Pubitemid 39472185)
3. Lesser PB, El-Nahas AM, Lukl P, et al. Adult-onset Hirschsprung's disease. JAMA. 1979;242:747-748. (Pubitemid 10243655)
4. Todd IP. Adult Hirschsprung's disease. Br J Surg. 1977;64:311-312. (Pubitemid 8088736)
5. Martucciello G, Pini Prato A, Puri P, et al. Controversies concerning diagnostic guidelines for anomalies of the enteric nervous system: a report from the fourth International Symposium on Hirschsprung's disease and related neurocristopathies. J Pediatr Surg. 2005;40:1527-1531. (Pubitemid 41530108)
6. Yu CS, Kim HC, Hong HK, et al. Evaluation of myenteric ganglion cells and interstitial cells of Cajal in patients with chronic idiopathic constipation. Int J Colorectal Dis. 2002;17:253-258. (Pubitemid 36075780)
7. Kim HJ, Kim AY, Lee CW, et al. Hirschsprung disease and hypoganglionosis in adults: radiologic findings and differentiation. Radiology. 2008;247:428-434.
8. Choi JS, Lim JS, Kim H, et al. Colonic pseudoobstruction: CT findings. Am J Roentgenol. 2008;190:1521-1526. (Pubitemid 351798540)
9. Burns AJ. Disorders of interstitial cells of Cajal. J Pediatr Gastroenterol Nutr. 2007;45:S103-S106.
10. Wedel T, Spiegler J, Soellner S, et al. Enteric nerves and interstitial cells of Cajal are altered in patients with slow-transit constipation and megacolon. Gastroenterology. 2002;123:1459-1467. (Pubitemid 35231645)
11. Lee JI, Park H, Kamm MA, et al. Decreased density of interstitial cells of Cajal and neuronal cells in patients with slow-transit constipation and acquired megacolon. J Gastroenterol Hepatol. 2005;20:1292-1298. (Pubitemid 41602575)
12. Vanderwinden JM, Rumessen JJ, Liu H, et al. Interstitial cells of Cajal in human colon and in Hirschsprung's disease. Gastroenterology. 1996;111:901-910. (Pubitemid 26327592)
13. Horisawa M, Watanabe Y, Torihashi S. Distribution of c-Kit immunopositive cells in normal human colon and in Hirschsprung's disease. J Pediatr Surg. 1998;33:1209-1214. (Pubitemid 28384802)
14. Iwashita T, Kruger GM, Pardal R, Kiel MJ, Morrison SJ. Hirschsprung disease is linked to defects in neural crest stem cell function. Science. 2003;301:972-976. (Pubitemid 36994811)
15. Fitze G, Cramer J, Ziegler A, et al. Association between c135G/A genotype and RET proto-oncogene germline mutations and phenotype of Hirschsprung's disease. Lancet. 2002;359:1200-1205. (Pubitemid 34304261)
16. Metcalf AM, Phillips SF, Zinsmeister AR, et al. Simplified assessment of segmental colonic transit. Gastroenterology. 1987;92:40-47. (Pubitemid 17207659)
17. Jung HY, Park JS, Park YJ, Kim YJ, Kim K, Koh IS. HapAnalyzer: minimum haplotype analysis system for association studies. Genomics Inform. 2004;2:107-109.
18. Taguchi T, Masumoto K, Ieiri S, et al. New classification of hypoganglionosis: congenital and acquired hypoganglionosis. J Pediatr Surg. 2006;41:2046-2051. (Pubitemid 44854941)
19. Scharli AF, Sossai R. Hypoganglionosis. Semin Pediatr Surg. 1998;7:187-191.
20. Munakata K, Fukuzawa M, Nemoto N. Histologic criteria for the diagnosis of allied diseases of Hirschsprung's disease in adults. Eur J Pediatr Surg. 2002;12:186-191. (Pubitemid 34712792)
21. Bruder E, Meier-Ruge WA. Hypoganglionosis as a cause of chronic constipation. Pathologe. 2007;28:131-136. (Pubitemid 46362170)
22. Riemann JF, Schmidt H, Zimmermann W. The fine structure of colonic submucosal nerves in patients with chronic laxative abuse. Scan J Gastroenterol. 1980;15:761-768. (Pubitemid 11225954)
23. Reifferscheid P, Oehmichen M, Schweizer P, et al. Erworbene segmentare Hypoganglionosen. Z Kinderchir. 1978;23:49-52.
24. Schmidt A, Dreissler W. Zum sekundaren Gagnlienzellverlust des Dick-und Dunndarms nach rezidivierendem Ileus and Peritonitis beim Saugling. Z Kinderchir. 1988;43:54-55. (Pubitemid 18090504)
25. Schweizer P, Peiffer J, Oehmichen M, et al. Pathogenese sekundarer neuronaler Veranderungen im Darm. Z Kinderchir. 1980;31:197-204. (Pubitemid 11253384)
26. Sangkhathat S, Kusafuka T, Chengkriwate P, Patrapinyokul S, Sangthong B, Fukuzawa M. Mutations and polymorphisms of Hirschsprung disease candidate genes in Thai patients. J Hum Genet. 2006;51:1126-1132. (Pubitemid 44800733)
27. Sanders KM, Ordög T, Koh SD, et al. Development and plasticity of interstitial cells of Cajal. Neurogastroenterol Motil. 1999;11:311-338. (Pubitemid 29410633)
28. Vanderwinden JM, Rumessen JJ. Interstitial cells of Cajal in human gut and gastrointestinal disease. Microsc Res Tech. 1999;47:344-360.
29. Young HM, Torihashi S, Ciampoli D, et al. Identification of neurons that express stem cell factor in the mouse small intestine. Gastroenterology. 1998;115:898-908. (Pubitemid 28452938)
30. Wu JJ, Rothman TP, Gershon MD. Development of the interstitial cell of Cajal: origin, kit dependence and neuronal and nonneuronal sources of kit ligand. J Neurosci Res. 2000;59:384-401. (Pubitemid 30107979)
31. Torihashi S, Ward SM, Sanders KM. Development of c-Kit-positive cells and the onset of electrical rhythmicity in murine small intestine. Gastroenterology. 1997;112:144-155. (Pubitemid 27008996)