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Volumn 9, Issue 3, 2007, Pages 245-253

Symptomatology, pathophysiology, diagnostic work-up, and treatment of Hirschsprung disease in infancy and childhood

Author keywords

[No Author keywords available]

Indexed keywords

ENEMA; PROTEIN TYROSINE KINASE;

EID: 34249911207     PISSN: 15228037     EISSN: None     Source Type: Journal    
DOI: 10.1007/s11894-007-0026-z     Document Type: Review
Times cited : (58)

References (80)
  • 1
    • 0027511426 scopus 로고
    • Development of bowel habit in preterm infants
    • Weaver LT, Lucas A: Development of bowel habit in preterm infants. Arch Dis Child 1993, 68:317-320.
    • (1993) Arch Dis Child , vol.68 , pp. 317-320
    • Weaver, L.T.1    Lucas, A.2
  • 2
    • 0027509647 scopus 로고
    • Time of first stool in extremely low birth weight (< or = 1000 grams) infants
    • Verma A, Dhanireddy R: Time of first stool in extremely low birth weight (< or = 1000 grams) infants. J Pediatr 1993, 122:62-69.
    • (1993) J Pediatr , vol.122 , pp. 62-69
    • Verma, A.1    Dhanireddy, R.2
  • 3
    • 0000295422 scopus 로고
    • Amniopraphy studies of the gastrointestinal motility of the human fetus
    • MClain CR Jr: Amniopraphy studies of the gastrointestinal motility of the human fetus. Am J Obstet Gynecol 1963, 86:1079-1087.
    • (1963) Am J Obstet Gynecol , vol.86 , pp. 1079-1087
    • MClain Jr, C.R.1
  • 4
    • 0028606161 scopus 로고
    • Development of gastrointestinal motility in the infant and child
    • Dumont RC, Rudolph CD: Development of gastrointestinal motility in the infant and child. Gastroenterol Clin North Am 1994, 23:655-671.
    • (1994) Gastroenterol Clin North Am , vol.23 , pp. 655-671
    • Dumont, R.C.1    Rudolph, C.D.2
  • 5
    • 0025741347 scopus 로고
    • Physiology and pathophysiology of colonic motor activity (2)
    • Sarna SK: Physiology and pathophysiology of colonic motor activity (2). Dig Dis Sci 1991, 36:998-1018.
    • (1991) Dig Dis Sci , vol.36 , pp. 998-1018
    • Sarna, S.K.1
  • 6
    • 0031975953 scopus 로고    scopus 로고
    • Delayed maturation of the interstitial cells of Cajal: A new diagnosis for transient neonatal pseudoobstruction. Report of two cases
    • Kenny SE, Vanderwinden JM, Rintala RJ, et al.: Delayed maturation of the interstitial cells of Cajal: a new diagnosis for transient neonatal pseudoobstruction. Report of two cases. J Pediatr Surg 1998, 33:94-98.
    • (1998) J Pediatr Surg , vol.33 , pp. 94-98
    • Kenny, S.E.1    Vanderwinden, J.M.2    Rintala, R.J.3
  • 7
    • 0035195884 scopus 로고    scopus 로고
    • Physiology and pathophysiology of the interstitial cell of Cajal: From bench to bedside. II. Gastric motility: lessons from mutant mice on slow waves and innervation
    • Huizinga JD: Physiology and pathophysiology of the interstitial cell of Cajal: from bench to bedside. II. Gastric motility: lessons from mutant mice on slow waves and innervation. Am J Physiol Gastrointest Liver Physiol 2001, 281:G1129-G1134.
    • (2001) Am J Physiol Gastrointest Liver Physiol , vol.281
    • Huizinga, J.D.1
  • 8
    • 0028796630 scopus 로고
    • W/kit gene required for interstitial cells of Cajal and for intestinal pacemaker activity
    • Huizinga JD, Thuneberg L, Kluppel M, et al.: W/kit gene required for interstitial cells of Cajal and for intestinal pacemaker activity. Nature 1995, 373:347-349.
    • (1995) Nature , vol.373 , pp. 347-349
    • Huizinga, J.D.1    Thuneberg, L.2    Kluppel, M.3
  • 9
    • 0034016349 scopus 로고    scopus 로고
    • Meconium diseases in infants with very low birth weight
    • Dimmitt RA,.Moss RL: Meconium diseases in infants with very low birth weight. Semin Pediatr Surg 2000, 9:79-83.
    • (2000) Semin Pediatr Surg , vol.9 , pp. 79-83
    • Dimmitt, R.A.1    Moss, R.L.2
  • 10
    • 33646170412 scopus 로고    scopus 로고
    • Childhood functional gastrointestinal disorders: Neonate/toddler
    • Hyman PE, Milla PJ, Benninga MA, et al.: Childhood functional gastrointestinal disorders: neonate/toddler. Gastroenterology 2006, 130:1519-1526.
    • (2006) Gastroenterology , vol.130 , pp. 1519-1526
    • Hyman, P.E.1    Milla, P.J.2    Benninga, M.A.3
  • 12
    • 0014757389 scopus 로고
    • Defecation and continence: Some new concepts
    • Scharli AF, Kiesewetter WB: Defecation and continence: some new concepts. Dis Colon Rectum 1970, 13:81-107.
    • (1970) Dis Colon Rectum , vol.13 , pp. 81-107
    • Scharli, A.F.1    Kiesewetter, W.B.2
  • 13
    • 0002987609 scopus 로고    scopus 로고
    • Hirschsprung's disease: Clinical generalities
    • Edited by Holschneider AM, Puri P. Frankfurt, Germany: Springer;
    • Puri P: Hirschsprung's disease: clinical generalities. In Hirschsprung's Disease and Allied Disorders. Edited by Holschneider AM, Puri P. Frankfurt, Germany: Springer; 2000:129-135.
    • (2000) Hirschsprung's Disease and Allied Disorders , pp. 129-135
    • Puri, P.1
  • 14
    • 20544445936 scopus 로고    scopus 로고
    • Diagnosis of Hirschsprung's disease: A prospective, comparative accuracy study of common tests
    • de Lorijn F, Reitsma JB, Voskuijl WP, et al.: Diagnosis of Hirschsprung's disease: a prospective, comparative accuracy study of common tests. J Pediatr 2005, 1146:787-792
    • (2005) J Pediatr , vol.1146 , pp. 787-792
    • de Lorijn, F.1    Reitsma, J.B.2    Voskuijl, W.P.3
  • 16
    • 0021344732 scopus 로고
    • Diagnosis and treatment of Hirschsprung's disease in Japan. An analysis of 1628 patients
    • Ikeda K, Goto S: Diagnosis and treatment of Hirschsprung's disease in Japan. An analysis of 1628 patients. Ann Surg 1984, 199:400-405.
    • (1984) Ann Surg , vol.199 , pp. 400-405
    • Ikeda, K.1    Goto, S.2
  • 17
    • 0018676390 scopus 로고
    • Hirschsprung's disease - a survey of the members of the Surgical Section of the American Academy of Pediatrics
    • Kleinhaus S, Boley SJ, Sheran M, Sieber WK: Hirschsprung's disease - a survey of the members of the Surgical Section of the American Academy of Pediatrics. J Pediatr Surg 1979, 14:588-597.
    • (1979) J Pediatr Surg , vol.14 , pp. 588-597
    • Kleinhaus, S.1    Boley, S.J.2    Sheran, M.3    Sieber, W.K.4
  • 18
    • 33750168399 scopus 로고    scopus 로고
    • Current concepts in RET-related genetics, signaling and therapeutics
    • Plaza-Menacho I, Burzynski GM, de Groot JW, et al.: Current concepts in RET-related genetics, signaling and therapeutics. Trends Genet 2006, 22:627-36.
    • (2006) Trends Genet , vol.22 , pp. 627-636
    • Plaza-Menacho, I.1    Burzynski, G.M.2    de Groot, J.W.3
  • 19
    • 12744279752 scopus 로고    scopus 로고
    • Studying the genetics of Hirschsprung's disease: Unraveling an oligogenic disorder
    • Brooks AS, Oostra BA, Hofstra RM: Studying the genetics of Hirschsprung's disease: unraveling an oligogenic disorder. Clin Genet 2005, 67:6-14.
    • (2005) Clin Genet , vol.67 , pp. 6-14
    • Brooks, A.S.1    Oostra, B.A.2    Hofstra, R.M.3
  • 20
    • 0027972513 scopus 로고
    • Mutations of the RET proto-oncogene in Hirschsprung's disease
    • Edery P, Lyonnet S, Mulligan LM, et al.: Mutations of the RET proto-oncogene in Hirschsprung's disease. Nature 1994, 367:378-380.
    • (1994) Nature , vol.367 , pp. 378-380
    • Edery, P.1    Lyonnet, S.2    Mulligan, L.M.3
  • 21
    • 0028120882 scopus 로고
    • Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease
    • Romeo G, Ronchetto P, Luo Y, et al.: Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease. Nature 1994, 367:377-378.
    • (1994) Nature , vol.367 , pp. 377-378
    • Romeo, G.1    Ronchetto, P.2    Luo, Y.3
  • 22
    • 0034950648 scopus 로고    scopus 로고
    • Functional analysis of ret with Hirschsprung mutations affecting its kinase domain
    • Iwashita T, Kurokawa K, Qiao S, et al.: Functional analysis of ret with Hirschsprung mutations affecting its kinase domain. Gastroenterology 2001, 121:24-33.
    • (2001) Gastroenterology , vol.121 , pp. 24-33
    • Iwashita, T.1    Kurokawa, K.2    Qiao, S.3
  • 23
    • 0029836333 scopus 로고    scopus 로고
    • Seminars in medicine of the Beth Israel Hospital, Boston. The RET proto-oncogene in multiple endocrine neoplasia type 2 and Hirschsprung's disease
    • Eng C: Seminars in medicine of the Beth Israel Hospital, Boston. The RET proto-oncogene in multiple endocrine neoplasia type 2 and Hirschsprung's disease. N Engl J Med 1996, 335:943-951.
    • (1996) N Engl J Med , vol.335 , pp. 943-951
    • Eng, C.1
  • 24
    • 13344286328 scopus 로고
    • RET activation by germline MEN2A and MEN2B mutations
    • Borrello MG, Smith DP, Pasini B, et al.: RET activation by germline MEN2A and MEN2B mutations. Oncogene 1995, 11:2419-2427.
    • (1995) Oncogene , vol.11 , pp. 2419-2427
    • Borrello, M.G.1    Smith, D.P.2    Pasini, B.3
  • 25
    • 0034764984 scopus 로고    scopus 로고
    • Hirschsprung's disease, associated syndromes, and genetics: A review
    • Amiel J, Lyonnet S: Hirschsprung's disease, associated syndromes, and genetics: a review. J Med Genet 2001, 38:729-739.
    • (2001) J Med Genet , vol.38 , pp. 729-739
    • Amiel, J.1    Lyonnet, S.2
  • 26
    • 0033151875 scopus 로고    scopus 로고
    • Development of the mammalian enteric nervous system
    • Taraviras S, Pachnis V: Development of the mammalian enteric nervous system. Curr Opin Genet Dev 1999, 9:321-327.
    • (1999) Curr Opin Genet Dev , vol.9 , pp. 321-327
    • Taraviras, S.1    Pachnis, V.2
  • 27
    • 0036123788 scopus 로고    scopus 로고
    • Development of the enteric nervous system
    • Bates MD: Development of the enteric nervous system. Clin Perinatol 2002, 29:97-114.
    • (2002) Clin Perinatol , vol.29 , pp. 97-114
    • Bates, M.D.1
  • 28
    • 12344317697 scopus 로고    scopus 로고
    • Developmental biology of the enteric nervous system: Pathogenesis of Hirschsprung's disease and other congenital dysmotilities
    • Gershon MD, Ratcliffe EM: Developmental biology of the enteric nervous system: pathogenesis of Hirschsprung's disease and other congenital dysmotilities. Semin Pediatr Surg 2004, 13:224-235.
    • (2004) Semin Pediatr Surg , vol.13 , pp. 224-235
    • Gershon, M.D.1    Ratcliffe, E.M.2
  • 29
    • 33645034418 scopus 로고    scopus 로고
    • From the bench to the 'crib'-side: Implications of scientific advances to paediatric neurogastroenterology and motility
    • Chitkara DK, Di Lorenzo C. From the bench to the 'crib'-side: implications of scientific advances to paediatric neurogastroenterology and motility. Neurogastroenterol Motil 2006, 18:251-262.
    • (2006) Neurogastroenterol Motil , vol.18 , pp. 251-262
    • Chitkara, D.K.1    Di Lorenzo, C.2
  • 30
    • 0008872521 scopus 로고    scopus 로고
    • Pathophysiology of Classical Hirschsprung's disease
    • Edited by Holschneider AM, Puri P. Frankfurt, Germany: Springer;
    • Scharli AF: Pathophysiology of Classical Hirschsprung's disease. In Hirschsprung's Disease and Allied Disorders. Edited by Holschneider AM, Puri P. Frankfurt, Germany: Springer; 2000:109-125.
    • (2000) Hirschsprung's Disease and Allied Disorders , pp. 109-125
    • Scharli, A.F.1
  • 32
    • 0029936877 scopus 로고    scopus 로고
    • Nitric oxide and the rectoanal inhibitory reflex: Retrograde neuronal tracing reveals a descending nitrergic rectoanal pathway in a guinea-pig model
    • Stebbing JF, Brading AF, Mortensen NJ: Nitric oxide and the rectoanal inhibitory reflex: retrograde neuronal tracing reveals a descending nitrergic rectoanal pathway in a guinea-pig model. Br J Surg 1996, 83:493-498.
    • (1996) Br J Surg , vol.83 , pp. 493-498
    • Stebbing, J.F.1    Brading, A.F.2    Mortensen, N.J.3
  • 33
    • 0026600071 scopus 로고
    • Role of nitric oxide as a mediator of internal anal sphincter relaxation
    • Rattan S, Chakder S: Role of nitric oxide as a mediator of internal anal sphincter relaxation. Am J Physiol 1992, 262: G107-G12.
    • (1992) Am J Physiol , vol.262
    • Rattan, S.1    Chakder, S.2
  • 34
    • 0031879839 scopus 로고    scopus 로고
    • Interstitial cells of Cajal mediate enteric inhibitory neurotransmission in the lower esophageal and pyloric sphincters
    • Ward SM, Morris G, Reese L, et al.: Interstitial cells of Cajal mediate enteric inhibitory neurotransmission in the lower esophageal and pyloric sphincters. Gastroenterology 1998, 115:314-329.
    • (1998) Gastroenterology , vol.115 , pp. 314-329
    • Ward, S.M.1    Morris, G.2    Reese, L.3
  • 35
    • 0029957233 scopus 로고    scopus 로고
    • Interstitial cells of Cajal mediate inhibitory neurotransmission in the stomach
    • Burns AJ, Lomax AE, Torihashi S, et al.: Interstitial cells of Cajal mediate inhibitory neurotransmission in the stomach. Proc Natl Acad Sci U S A 1996, 93:1200-1213.
    • (1996) Proc Natl Acad Sci U S A , vol.93 , pp. 1200-1213
    • Burns, A.J.1    Lomax, A.E.2    Torihashi, S.3
  • 36
    • 22644436369 scopus 로고    scopus 로고
    • Interstitial cells of cajal are involved in the rectoanal inhibitory
    • de Lorijn F, de Jonge WJ, Wedel T, et al.: Interstitial cells of cajal are involved in the rectoanal inhibitory. Gut 2005, 54:1107-1113
    • (2005) Gut , vol.54 , pp. 1107-1113
    • de Lorijn, F.1    de Jonge, W.J.2    Wedel, T.3
  • 38
    • 0032935196 scopus 로고    scopus 로고
    • Anorectal manometry during the neonatal period: Its specificity in the diagnosis of Hirschsprung's disease
    • Emir H, Akman M, Sarimurat N, et al.: Anorectal manometry during the neonatal period: its specificity in the diagnosis of Hirschsprung's disease. Eur J Pediatr Surg 1999, 9:101-103.
    • (1999) Eur J Pediatr Surg , vol.9 , pp. 101-103
    • Emir, H.1    Akman, M.2    Sarimurat, N.3
  • 39
    • 0033219193 scopus 로고    scopus 로고
    • The diagnostic value of anorectal manometry as a screening test for Hirschsprung's disease
    • Osatakul S, Parrapinyokul S, Osatakul N: The diagnostic value of anorectal manometry as a screening test for Hirschsprung's disease. J Med Assoc Thai 1999, 82:1100-1105.
    • (1999) J Med Assoc Thai , vol.82 , pp. 1100-1105
    • Osatakul, S.1    Parrapinyokul, S.2    Osatakul, N.3
  • 41
    • 0025266377 scopus 로고
    • Problems and advantages of acetylcholinesterase histochemistry of rectal suction biopsies in the diagnosis of Hirschsprung's disease
    • Athow AC, Filipe MI, Drake DP: Problems and advantages of acetylcholinesterase histochemistry of rectal suction biopsies in the diagnosis of Hirschsprung's disease. J Pediatr Surg 1990, 25:520-526.
    • (1990) J Pediatr Surg , vol.25 , pp. 520-526
    • Athow, A.C.1    Filipe, M.I.2    Drake, D.P.3
  • 42
    • 0025817326 scopus 로고
    • Characterization of neonatal multisystem organ failure in the surgical newborn
    • Smith SD, Tagge EP, Harmakan C, Rowe MI: Characterization of neonatal multisystem organ failure in the surgical newborn. J Pediatr Surg 1991, 26:494-497.
    • (1991) J Pediatr Surg , vol.26 , pp. 494-497
    • Smith, S.D.1    Tagge, E.P.2    Harmakan, C.3    Rowe, M.I.4
  • 43
    • 0028595584 scopus 로고
    • Management of constipation and encopresis in infants and children
    • Seth R, Heyman MB: Management of constipation and encopresis in infants and children. Gastroenterol Clin North Am 1994, 23:621-636.
    • (1994) Gastroenterol Clin North Am , vol.23 , pp. 621-636
    • Seth, R.1    Heyman, M.B.2
  • 44
    • 0011830152 scopus 로고    scopus 로고
    • Diagnosis of Hirschsprung's disease and allied disorders
    • Edited by Holschneider AM, Puri P. Frankfurt, Germany: Springer;
    • Blake NS: Diagnosis of Hirschsprung's disease and allied disorders. In Hirschsprung's Disease and Allied Disorders. Edited by Holschneider AM, Puri P. Frankfurt, Germany: Springer; 2000:223-290.
    • (2000) Hirschsprung's Disease and Allied Disorders , pp. 223-290
    • Blake, N.S.1
  • 45
    • 0025811235 scopus 로고
    • Hirschsprung's disease: A review
    • Doig CM: Hirschsprung's disease: a review. Int J Colorectal Dis 1991, 6:52-62.
    • (1991) Int J Colorectal Dis , vol.6 , pp. 52-62
    • Doig, C.M.1
  • 46
    • 0022535530 scopus 로고
    • How useful is the barium enema in the diagnosis of infantile Hirschsprung's disease?
    • Taxman TL, Yulish BS, Rothstein FC: How useful is the barium enema in the diagnosis of infantile Hirschsprung's disease? Am J Dis Child 1986, 140:881-884.
    • (1986) Am J Dis Child , vol.140 , pp. 881-884
    • Taxman, T.L.1    Yulish, B.S.2    Rothstein, F.C.3
  • 47
    • 0034056916 scopus 로고    scopus 로고
    • Case 22: Total colonic aganglionosis - long-segment Hirschsprung disease
    • Das NL, Hingsbergen EA: Case 22: total colonic aganglionosis - long-segment Hirschsprung disease. Radiology 2000, 215:391-394.
    • (2000) Radiology , vol.215 , pp. 391-394
    • Das, N.L.1    Hingsbergen, E.A.2
  • 48
    • 0038335831 scopus 로고    scopus 로고
    • Correlation between radiographic transition zone and level of aganglionosis in Hirschsprung's disease: Implications for surgical approach
    • Proctor ML, Traubici J, Langer JC, et al.: Correlation between radiographic transition zone and level of aganglionosis in Hirschsprung's disease: Implications for surgical approach. J Pediatr Surg 2003, 38:775-778.
    • (2003) J Pediatr Surg , vol.38 , pp. 775-778
    • Proctor, M.L.1    Traubici, J.2    Langer, J.C.3
  • 49
    • 34249884055 scopus 로고    scopus 로고
    • Benninga MA: Constipation and faecal incontinence in childhood [thesis]. Baarn: Bosch en Keuning; 1994.
    • Benninga MA: Constipation and faecal incontinence in childhood [thesis]. Baarn: Bosch en Keuning; 1994.
  • 50
    • 0037856421 scopus 로고    scopus 로고
    • Gastrointestinal manometry, methodology and indications
    • Edited by Walker W, Durie PR, Hamilton JR, et al, Philadelphia: BC Decker;
    • Nurko S: Gastrointestinal manometry, methodology and indications. In Pediatric Gastrointestinal Disease. Edited by Walker W, Durie PR, Hamilton JR, et al.: Philadelphia: BC Decker; 2000:1485-1510.
    • (2000) Pediatric Gastrointestinal Disease , pp. 1485-1510
    • Nurko, S.1
  • 51
    • 0034902090 scopus 로고    scopus 로고
    • Characterization of anorectal pressure and the anorectal inhibitory reflex in healthy preterm and term infants
    • Benninga MA, Omari TI, Haslam RR, et al.: Characterization of anorectal pressure and the anorectal inhibitory reflex in healthy preterm and term infants. J Pediatr 2001, 139:233-237.
    • (2001) J Pediatr , vol.139 , pp. 233-237
    • Benninga, M.A.1    Omari, T.I.2    Haslam, R.R.3
  • 52
    • 0344011078 scopus 로고    scopus 로고
    • Maturation of the rectoanal inhibitory reflex in very premature infants
    • de Lorijn F, Omari TI, Kok JH, et al.: Maturation of the rectoanal inhibitory reflex in very premature infants. J Pediatr 2003, 143:630-633.
    • (2003) J Pediatr , vol.143 , pp. 630-633
    • de Lorijn, F.1    Omari, T.I.2    Kok, J.H.3
  • 53
    • 0018367465 scopus 로고
    • Rectoanal pressures and rectal sensitivity studies in chronic childhood constipation
    • Meunier P, Marechal JM, de Beaujeu MJ: Rectoanal pressures and rectal sensitivity studies in chronic childhood constipation. Gastroenterology 1979, 77:330-336.
    • (1979) Gastroenterology , vol.77 , pp. 330-336
    • Meunier, P.1    Marechal, J.M.2    de Beaujeu, M.J.3
  • 54
    • 0015296378 scopus 로고
    • Acetylcholinesterase activity in suction biopsies of the rectum in the diagnosis of Hirschsprung's disease
    • Meier-Ruge W, Lutterbeck PM, Herzog B, et al.: Acetylcholinesterase activity in suction biopsies of the rectum in the diagnosis of Hirschsprung's disease. J Pediatr Sur 1972, 7:11-17.
    • (1972) J Pediatr Sur , vol.7 , pp. 11-17
    • Meier-Ruge, W.1    Lutterbeck, P.M.2    Herzog, B.3
  • 56
    • 0031707158 scopus 로고    scopus 로고
    • Rectal biopsy in the investigation of constipation
    • Ghosh A, Griffiths DM: Rectal biopsy in the investigation of constipation. Arch Dis Child 1998, 79:266-268.
    • (1998) Arch Dis Child , vol.79 , pp. 266-268
    • Ghosh, A.1    Griffiths, D.M.2
  • 57
    • 0024474299 scopus 로고
    • A 40-year multinational retrospective study of 880 Swenson procedures
    • Sherman JO, Snyder ME, Weitzman JJ, et al.: A 40-year multinational retrospective study of 880 Swenson procedures. J Pediatr Surg 1989, 24:833-838.
    • (1989) J Pediatr Surg , vol.24 , pp. 833-838
    • Sherman, J.O.1    Snyder, M.E.2    Weitzman, J.J.3
  • 58
    • 0029128777 scopus 로고
    • Primary laparoscopic pull-through for Hirschsprung's disease in infants and children
    • Georgeson KE, Fuenfer MM, Hardin WD: Primary laparoscopic pull-through for Hirschsprung's disease in infants and children. J Pediatr Surg 1995, 30:1017-1021.
    • (1995) J Pediatr Surg , vol.30 , pp. 1017-1021
    • Georgeson, K.E.1    Fuenfer, M.M.2    Hardin, W.D.3
  • 59
    • 33845930866 scopus 로고    scopus 로고
    • Are the long-term results of the transanal pull-through equal to those of the transabdominal pull-through? A comparison of the 2 approaches for Hirschsprung disease
    • El-Sawaf MI, Drongowski RA, Chamberlain JN, et al.: Are the long-term results of the transanal pull-through equal to those of the transabdominal pull-through? A comparison of the 2 approaches for Hirschsprung disease. J Pediatr Surg 2007, 42:41-47
    • (2007) J Pediatr Surg , vol.42 , pp. 41-47
    • El-Sawaf, M.I.1    Drongowski, R.A.2    Chamberlain, J.N.3
  • 60
    • 34249868838 scopus 로고    scopus 로고
    • Pediatric disorders of the distal gastrointestinal tract, surgical aspects
    • Edited by Lanschot JJB, Gouma DJ, Jansen PLM, et al, Stuttgart, Germany: Thieme Medical Publishers;
    • Geerdes BP, Hazebroek FWJ: Pediatric disorders of the distal gastrointestinal tract, surgical aspects. In Integrated Medical and Surgical Gastroenterology. Edited by Lanschot JJB, Gouma DJ, Jansen PLM, et al.: Stuttgart, Germany: Thieme Medical Publishers; 2004:644-653.
    • (2004) Integrated Medical and Surgical Gastroenterology , pp. 644-653
    • Geerdes, B.P.1    Hazebroek, F.W.J.2
  • 61
    • 0029000714 scopus 로고
    • Gastrointestinal function after surgical correction of Hirschsprung's disease: Long-term follow-up in 135 patients
    • Marty TL, Seo T, Matlak ME, et al.: Gastrointestinal function after surgical correction of Hirschsprung's disease: long-term follow-up in 135 patients. J Pediatr Surg 1995, 30:655-658.
    • (1995) J Pediatr Surg , vol.30 , pp. 655-658
    • Marty, T.L.1    Seo, T.2    Matlak, M.E.3
  • 62
    • 0024822429 scopus 로고
    • The pathophysiology of Hirschsprung's-associated enterocolitis: Importance of histologic correlates
    • Teitelbaum DH, Caniano DA, Qualman SJ: The pathophysiology of Hirschsprung's-associated enterocolitis: importance of histologic correlates. J Pediatr Surg 1989, 24:1271-1277.
    • (1989) J Pediatr Surg , vol.24 , pp. 1271-1277
    • Teitelbaum, D.H.1    Caniano, D.A.2    Qualman, S.J.3
  • 63
    • 0002695917 scopus 로고    scopus 로고
    • Enterocolitis complicating Hirschsprung's Disease
    • Edited by Holschneider AM, Puri P. Frankfurt, Germany: Springer;
    • Puri P, Wester T: Enterocolitis complicating Hirschsprung's Disease. In Hirschsprung's Disease and Allied Disorders. Edited by Holschneider AM, Puri P. Frankfurt, Germany: Springer; 2000; 165-173.
    • (2000) Hirschsprung's Disease and Allied Disorders , pp. 165-173
    • Puri, P.1    Wester, T.2
  • 64
    • 0029822455 scopus 로고    scopus 로고
    • Clinical outcome and long-term quality of life after surgical correction of Hirschsprung's disease
    • Moore SW, Albertyn R, Cywes S: Clinical outcome and long-term quality of life after surgical correction of Hirschsprung's disease. J Pediatr Surg 1996, 31:1496-1502.
    • (1996) J Pediatr Surg , vol.31 , pp. 1496-1502
    • Moore, S.W.1    Albertyn, R.2    Cywes, S.3
  • 65
    • 0027953379 scopus 로고
    • Long-term clinical, manometric, and histological evaluation of obstructive symptoms in the postoperative Hirschsprung's patient
    • Moore SW, Millar AJ, Cywes S: Long-term clinical, manometric, and histological evaluation of obstructive symptoms in the postoperative Hirschsprung's patient. J Pediatr Surg 1994, 29:106-111.
    • (1994) J Pediatr Surg , vol.29 , pp. 106-111
    • Moore, S.W.1    Millar, A.J.2    Cywes, S.3
  • 66
    • 2942642612 scopus 로고    scopus 로고
    • Critical factors affecting quality of life of adult patients with anorectal malformations or Hirschsprung's disease
    • Hartman EE, Oort FJ, Aronson DC, et al.: Critical factors affecting quality of life of adult patients with anorectal malformations or Hirschsprung's disease. Am J Gastroenterol 2004, 99:907-913.
    • (2004) Am J Gastroenterol , vol.99 , pp. 907-913
    • Hartman, E.E.1    Oort, F.J.2    Aronson, D.C.3
  • 67
    • 0029119781 scopus 로고
    • Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease
    • Attie T, Pelet A, Edery P, et al.: Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease. Hum Mol Genet 1995, 4:1381-1386.
    • (1995) Hum Mol Genet , vol.4 , pp. 1381-1386
    • Attie, T.1    Pelet, A.2    Edery, P.3
  • 68
    • 0029822720 scopus 로고    scopus 로고
    • De novo mutation of GDNF, ligand for the RET/GDNFR-alpha receptor complex, in Hirschsprung's disease
    • Ivanchuk SM, Myers SM, Eng C, Mulligan LM: De novo mutation of GDNF, ligand for the RET/GDNFR-alpha receptor complex, in Hirschsprung's disease. Hum Mol Genet 1996, 5:2023-2026.
    • (1996) Hum Mol Genet , vol.5 , pp. 2023-2026
    • Ivanchuk, S.M.1    Myers, S.M.2    Eng, C.3    Mulligan, L.M.4
  • 69
    • 7344244286 scopus 로고    scopus 로고
    • Mutation of the RET ligand, neurturin, supports multigenic inheritance in Hirschsprung disease
    • Doray B, Salomon R, Amiel J, et A: Mutation of the RET ligand, neurturin, supports multigenic inheritance in Hirschsprung disease. Hum Mol Genet 1998, 7:1449-1452.
    • (1998) Hum Mol Genet , vol.7 , pp. 1449-1452
    • Doray, B.1    Salomon, R.2    Amiel, J.3    et A4
  • 70
    • 0036788576 scopus 로고    scopus 로고
    • Genome-wide association study and mouse model identify interaction between RET and EDNRB pathways in Hirschsprung disease
    • Carrasquillo MM, McCallion AS, Puffenberger EG, et al.: Genome-wide association study and mouse model identify interaction between RET and EDNRB pathways in Hirschsprung disease. Nat Genet 2002, 32:237-244.
    • (2002) Nat Genet , vol.32 , pp. 237-244
    • Carrasquillo, M.M.1    McCallion, A.S.2    Puffenberger, E.G.3
  • 71
    • 12644284522 scopus 로고    scopus 로고
    • Endothelin-3 gene mutations in isolated and syndromic Hirschsprung disease
    • Bidaud C, Salomon R, Van Camp G, et al.: Endothelin-3 gene mutations in isolated and syndromic Hirschsprung disease. Eur J Hum Genet 1997, 5:247-251.
    • (1997) Eur J Hum Genet , vol.5 , pp. 247-251
    • Bidaud, C.1    Salomon, R.2    Van Camp, G.3
  • 72
    • 17344366171 scopus 로고    scopus 로고
    • SOX10 mutations in patients with Waardenburg-Hirschsprung disease
    • Pingault V, Bondurand N, Kuhlbrodt K, et al.: SOX10 mutations in patients with Waardenburg-Hirschsprung disease. Nat Genet 1998, 18:171-173.
    • (1998) Nat Genet , vol.18 , pp. 171-173
    • Pingault, V.1    Bondurand, N.2    Kuhlbrodt, K.3
  • 73
    • 0033366516 scopus 로고    scopus 로고
    • A loss-of-function mutation in the endothelin-converting enzyme 1 (ECE-1) associated with Hirschsprung disease, cardiac defects, and autonomic dysfunction
    • Hofstra RM, Valdenaire O, Arch E, et al.: A loss-of-function mutation in the endothelin-converting enzyme 1 (ECE-1) associated with Hirschsprung disease, cardiac defects, and autonomic dysfunction. Am J Hum Genet 1999, 64:304-308.
    • (1999) Am J Hum Genet , vol.64 , pp. 304-308
    • Hofstra, R.M.1    Valdenaire, O.2    Arch, E.3
  • 74
    • 0035065576 scopus 로고    scopus 로고
    • Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease
    • Wakamatsu N, Yamada Y, Yamada K, et al.: Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease. Nat Genet 2001, 27:369-370.
    • (2001) Nat Genet , vol.27 , pp. 369-370
    • Wakamatsu, N.1    Yamada, Y.2    Yamada, K.3
  • 75
    • 34047235515 scopus 로고    scopus 로고
    • ZFHX1B mutations in patients with Mowat-Wilson syndrome
    • Dastot-Le Moal F, Wilson M, et al.: ZFHX1B mutations in patients with Mowat-Wilson syndrome. Hum Mutat 2007 28:313-321.
    • (2007) Hum Mutat , vol.28 , pp. 313-321
    • Dastot-Le Moal, F.1    Wilson, M.2
  • 76
    • 20544477967 scopus 로고    scopus 로고
    • Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems
    • Brooks AS, Bertoli-Avella AM, Burzynski GM, et al.: Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems. Am J Hum Genet 2005, 77:120-126.
    • (2005) Am J Hum Genet , vol.77 , pp. 120-126
    • Brooks, A.S.1    Bertoli-Avella, A.M.2    Burzynski, G.M.3
  • 77
    • 0037379890 scopus 로고    scopus 로고
    • Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome
    • Amiel J, Laudier B, Attie-Bitach T, et al.: Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome. Nat Genet 2003, 33:459-461.
    • (2003) Nat Genet , vol.33 , pp. 459-461
    • Amiel, J.1    Laudier, B.2    Attie-Bitach, T.3
  • 78
    • 18544365991 scopus 로고    scopus 로고
    • Segregation at three loci explains familial and population risk in Hirschsprung disease
    • Gabriel SB, Salomon R, Pelet A, et al.: Segregation at three loci explains familial and population risk in Hirschsprung disease. Nat Genet 2002, 31:89-93.
    • (2002) Nat Genet , vol.31 , pp. 89-93
    • Gabriel, S.B.1    Salomon, R.2    Pelet, A.3
  • 79
    • 0034602646 scopus 로고    scopus 로고
    • A human model for multigenic inheritance: Phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus
    • Bolk S, Pelet A, Hofstra RM, Angrist M, et al.: A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus. Proc Natl Acad Sci U S A, 2004, 97:268-273.
    • (2004) Proc Natl Acad Sci U S A , vol.97 , pp. 268-273
    • Bolk, S.1    Pelet, A.2    Hofstra, R.M.3    Angrist, M.4
  • 80
    • 33746850690 scopus 로고    scopus 로고
    • A novel susceptibility locus for Hirschsprung's disease maps to 4q31.3-q32.3
    • Brooks AS, Leegwater PA, Burzynski GM, et al.: A novel susceptibility locus for Hirschsprung's disease maps to 4q31.3-q32.3. J Med Genet 2006, 43:e35.
    • (2006) J Med Genet , vol.43
    • Brooks, A.S.1    Leegwater, P.A.2    Burzynski, G.M.3


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