Doença de Hirschsprung

Montalva L, Cheng LS, Kapur R, et al. Hirschsprung disease. Nat Rev Dis Primers. 2023 Oct 12;9(1):54. Resumo

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.Texto completo  Resumo

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.Texto completo  Resumo

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.Texto completo  Resumo

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.Texto completo  Resumo

1. Montalva L, Cheng LS, Kapur R, et al. Hirschsprung disease. Nat Rev Dis Primers. 2023 Oct 12;9(1):54. Resumo

2. Peña A, Bischoff A. Hirchsprung disease. In: Peña A, Bischoff A, eds. Surgical treatment of colorectal problems in children. Cham, Switzerland: Springer International Publishing; 2015:399-436.

3. Pastor AC, Osman F, Teitelbaum DH, et al. Development of a standardized definition for Hirschsprung's-associated enterocolitis: a Delphi analysis. J Pediatr Surg. 2009 Jan;44(1):251-6. Resumo

4. 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.Texto completo  Resumo

5. Butler Tjaden NE, Trainor PA. The developmental etiology and pathogenesis of Hirschsprung disease. Transl Res. 2013 Jul;162(1):1-15.Texto completo  Resumo

6. Langer JC. Hirschsprung disease. Curr Opin Pediatr. 2013 Jun;25(3):368-74. Resumo

7. Huerta CT, Ramsey WA, Davis JK, et al. Nationwide outcomes of newborns with rectosigmoid versus long-segment Hirschsprung disease. J Pediatr Surg. 2023 May;58(5):849-55. Resumo

8. Moore SW. Total colonic aganglionosis in Hirschsprung disease. Semin Pediatr Surg. 2012 Nov;21(4):302-9. Resumo

9. Cordeiro-Rudnisky F, Ahn S, Sheuka N, et al. Transition zone in total colonic aganglionosis and colorectal Hirschsprung's disease shows a similar trend of mucosal innervation: image processing and analysis study. Pediatr Dev Pathol. 2020 Mar-Apr;23(2):127-31. Resumo

10. Ruttenstock E, Puri P. A meta-analysis of clinical outcome in patients with total intestinal aganglionosis. Pediatr Surg Int. 2009;25:833-9. Resumo

11. 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.Texto completo  Resumo

12. Lewit RA, Kuruvilla KP, Fu M, et al. Current understanding of Hirschsprung-associated enterocolitis: pathogenesis, diagnosis and treatment. Semin Pediatr Surg. 2022 Apr;31(2):151162.Texto completo  Resumo

13. Knaus ME, Pendola G, Srinivas S, et al. Social determinants of health and Hirschsprung-associated enterocolitis. J Pediatr Surg. 2023 Aug;58(8):1458-62. Resumo

14. Arliss J, Holgersen LO. Neonatal appendiceal perforation and Hirschsprung's disease. J Pediatr Surg. 1990 Jun;25(6):694-5. Resumo

15. Beltman L, Labib H, Oosterlaan J, et al. Risk factors for complications in patients with Hirschsprung disease while awaiting surgery: beware of bowel perforation. J Pediatr Surg. 2022 Nov;57(11):561-8.Texto completo  Resumo

16. Spouge D, Baird PA. Hirschsprung disease in a large birth cohort. Teratology. 1985 Oct;32(2):171-7. Resumo

17. Anderson JE, Vanover MA, Saadai P, et al. Epidemiology of Hirschsprung disease in California from 1995 to 2013. Pediatr Surg Int. 2018 Dec;34(12):1299-1303.Texto completo  Resumo

18. Passarge E. The genetics of Hirschsprung's disease. Evidence for heterogeneous etiology and a study of sixty-three families. N Engl J Med. 1967;276:138-43. Resumo

19. Karim A, Tang CS, Tam PK. The emerging genetic landscape of Hirschsprung disease and its potential clinical applications. Front Pediatr. 2021;9:638093.Texto completo  Resumo

20. Xiao J, Hao LW, Wang J, et al. Comprehensive characterization of the genetic landscape of familial Hirschsprung's disease. World J Pediatr. 2023 Jul;19(7):644-51.Texto completo  Resumo

21. Moore SW. The contribution of associated congenital anomalies in understanding Hirschsprung's disease. Pediatr Surg Int. 2006;22:305-15. Resumo

22. Friedmacher F, Puri P. Hirschsprung's disease associated with Down syndrome: a meta-analysis of incidence, functional outcomes and mortality. Pediatr Surg Int. 2013 Sep;29(9):937-46. Resumo

23. Moore SW. Chromosomal and related Mendelian syndromes associated with Hirschsprung's disease. Pediatr Surg Int. 2012 Nov;28(11):1045-58. Resumo

24. Amiel J, Sproat-Emison E, Garcia-Barcelo M, et al. Hirschsprung disease, associated syndromes and genetics: a review. J Med Genet. 2008 Jan;45(1):1-14.Texto completo  Resumo

25. Hofmann AD, Puri P. Association of Hirschsprung's disease and anorectal malformation: a systematic review. Pediatr Surg Int. 2013 Sep;29(9):913-7.Texto completo  Resumo

26. Tilghman JM, Ling AY, Turner TN, et al. Molecular genetic anatomy and risk profile of Hirschsprung's disease. N Engl J Med. 2019 Apr 11;380(15):1421-32.Texto completo  Resumo

27. 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.Texto completo  Resumo

28. Emison ES, McCallion AS, Kashuk CS, et al. A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk. Nature. 2005 Apr 14;434(7035):857-63. Resumo

29. Best KE, Addor MC, Arriola L, et al. Hirschsprung's disease prevalence in Europe: a register based study. Birth Defects Res A Clin Mol Teratol. 2014 Sep;100(9):695-702. Resumo

30. Edery P, Attié T, Amiel J, et al. Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome). Nat Genet. 1996 Apr;12(4):442-4. Resumo

31. Woo HY, Oh C, Han JW, et al. Clinical features of children with Haddad syndrome: a single-center experience. J Pediatr Surg. 2020 Mar;55(3):387-92. Resumo

32. Elema JD, de Vries JA, Vos LJ. Intensity and proximal extension of acetylcholinesterase activity in the mucosa of the rectosigmoid in Hirschsprung's disease. J Pediatr Surg. 1973;8:361-8. Resumo

33. Howard ER. Hirschsprung's disease: a review of the morphology and physiology. Postgrad Med J. 1972;48:471-7. Resumo

34. Howard ER. Histochemistry in the diagnosis and investigation of congenital aganglionosis (Hirschsprung's disease). Am Surg. 1973;39:602-7. Resumo

35. Lawal TA, Chatoorgoon K, Collins MH, et al. Redo pull-through in Hirschsprung's [corrected] disease for obstructive symptoms due to residual aganglionosis and transition zone bowel. J Pediatr Surg. 2011;46:342-7. Resumo

36. Okamoto E, Ueda T. Embryogenesis of intramural ganglia of the gut and its relation to Hirschsprung's disease. J Pediatr Surg. 1967;2:437.

37. Barlow A, de Graaff E, Pachnis V. Enteric nervous system progenitors are coordinately controlled by the G protein-coupled receptor EDNRB and the receptor tyrosine kinase RET. Neuron. 2003 Dec 4;40(5):905-16.Texto completo  Resumo

38. Hiatt RB. A further description of the pathologic physiology of congenital megacolon and the results of surgical treatment. Pediatrics. 1958;21:825-31. Resumo

39. Tobon F, Reid NC, Talbert JL, et al. Nonsurgical test for the diagnosis of Hirschsprung's disease. N Engl J Med. 1968;278:188-93. Resumo

40. O'Kelly TJ, Davies JR, Tam PK, et al. Abnormalities of nitric-oxide producing neurons in Hirschsprung's disease: morphology and implications. J Pediatr Surg. 1994;29:294-9. Resumo

41. Bealer JF, Natuzzi ES, Buscher C, et al. Nitric oxide synthase is deficient in the aganglionic colon of patients with Hirschsprung's disease. Pediatrics. 1994;93:647-51. Resumo

42. Pini Prato A, Arnoldi R, Sgrò A, et al. Hirschsprung disease and Down syndrome: from the reappraisal of risk factors to the impact of surgery. J Pediatr Surg. 2019 Sep;54(9):1838-42. Resumo

43. Saberi RA, Gilna GP, Slavin BV, et al. Hirschsprung disease in Down syndrome: an opportunity for improvement. J Pediatr Surg. 2022 Jun;57(6):1040-4. Resumo

44. Mc Laughlin D, Puri P. Familial Hirschsprung's disease: a systematic review. Pediatr Surg Int. 2015 Aug;31(8):695-700. Resumo

45. Coyle D, Puri P. Hirschsprung's disease in children with Mowat-Wilson syndrome. Pediatr Surg Int. 2015 Aug;31(8):711-7. Resumo

46. Wehrli LA, Reppucci ML, Ketzer J, et al. Incidence of medullary thyroid carcinoma and Hirschsprung disease based on the cosmos database. Pediatr Surg Int. 2023 Jul 7;39(1):227. Resumo

47. Ostertag-Hill CA, Nandivada P, Dickie BH. Late diagnosis of Hirschsprung disease: clinical presentation and long-term functional outcomes. J Pediatr Surg. 2024 Feb;59(2):220-4. Resumo

48. Diamond IR, Casadiego G, Traubici J, et al. The contrast enema for Hirschsprung disease: predictors of a false-positive result. J Pediatr Surg. 2007 May;42(5):792-5. Resumo

49. Chen X, Xiaojuan W, Zhang H, et al. Diagnostic value of the preoperatively detected radiological transition zone in Hirschsprung's disease. Pediatr Surg Int. 2017 May;33(5):581-6. Resumo

50. 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 May;38(5):775-8. Resumo

51. Green N, Smith CA, Bradford MC, et al. Rectal suction biopsy versus incisional rectal biopsy in the diagnosis of Hirschsprung disease. Pediatr Surg Int. 2022 Dec;38(12):1989-96. Resumo

52. Friedmacher F, Puri P. Rectal suction biopsy for the diagnosis of Hirschsprung's disease: a systematic review of diagnostic accuracy and complications. Pediatr Surg Int. 2015 Sep;31(9):821-30. Resumo

53. Hwang S, Kapur RP. Advances and pitfalls in the diagnosis of Hirschsprung disease. Surg Pathol Clin. 2020 Dec;13(4):567-79. Resumo

54. Ambartsumyan L, Smith C, Kapur RP. Diagnosis of Hirschsprung disease. Pediatr Dev Pathol. 2020 Jan-Feb;23(1):8-22. Resumo

55. Meinds RJ, Trzpis M, Broens PMA. Anorectal manometry may reduce the number of rectal suction biopsy procedures needed to diagnose Hirschsprung disease. J Pediatr Gastroenterol Nutr. 2018 Sep;67(3):322-7.Texto completo  Resumo

56. Frykman PK, Kim S, Wester T, et al. Critical evaluation of the Hirschsprung-associated enterocolitis (HAEC) score: a multicenter study of 116 children with Hirschsprung disease. J Pediatr Surg. 2018 Apr;53(4):708-17.Texto completo  Resumo

57. Zhu T, Zhang G, Meng X, et al. Enterocolitis is a risk factor for bowel perforation in neonates with Hirschsprung's disease: a retrospective multicenter study. Front Pediatr. 2022 Feb 7;10:807607.Texto completo  Resumo

58. Buonpane C, Lautz TB, Hu YY. Should we look for Hirschsprung disease in all children with meconium plug syndrome? J Pediatr Surg. 2019 Jun;54(6):1164-7. Resumo

59. 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.Texto completo  Resumo

60. International Pediatric Endosurgery Group (IPEG). IPEG Guidelines for surgical treatment of Hirschsprung disease. J Laparoendosc Adv Surg Tech A. 2005;15:89-91.Texto completo  Resumo

61. Georgeson KE, Fuenfer MM, Hardin WD. Primary laparoscopic pull-through for Hirschsprung's disease in infants and children. J Pediatr Surg. 1995;30:1017-21. Resumo

62. Smith BM, Steiner RB, Lobe TE. Laparoscopic Duhamel pullthrough procedure for Hirschsprung's disease in childhood. J Laparoendosc Surg. 1994;4:273-6. Resumo

63. Kim AC, Langer JC, Pastor AC, et al. Endorectal pull-through for Hirschsprung's disease - a multicenter, long-term comparison of results: transanal vs transabdominal approach. J Pediatr Surg. 2010;45:1213-20. Resumo

64. Badner JA, Sieber WK, Garver KL, et al. A genetic study of Hirschsprung disease. Am J Hum Genet. 1990;46:568-80.Texto completo  Resumo

65. Carcassonne M, Morisson-Lacombe G, Letourneau JN. Primary corrective operation without decompression in infants less than three months of age with Hirschsprung's disease. J Pediatr Surg. 1982;17:241-3. Resumo

66. So HB, Schwartz DL, Becker JM, et al. Endorectal "pull-through" without preliminary colostomy in neonates with Hirschsprung's disease. J Pediatr Surg. 1980;15:470-1. Resumo

67. Zani A, Eaton S, Morini F, et al. European Paediatric Surgeons' Association survey on the management of Hirschsprung disease. Eur J Pediatr Surg. 2017 Feb;27(1):96-101. Resumo

68. Freedman-Weiss MR, Chiu AS, Caty MG, et al. Delay in operation for Hirschsprung disease is associated with decreased length of stay: a 5-Year NSQIP-Peds analysis. J Perinatol. 2019 Aug;39(8):1105-10. Resumo

69. Soave F. Hirschsprung's disease - a new surgical technique. Arch Dis Child. 1964;39:116-24. Resumo

70. Duhamel B. Retrorectal and transanal pull-through procedure for the treatment of Hirschsprung's disease. Dis Colon Rectum. 1964;7:455-8. Resumo

71. Chatoorgoon K, Pena A, Lawal TA, et al. The problematic Duhamel pouch in Hirschsprung's disease: manifestations and treatment. Eur J Pediatr Surg. 2011;21:366-9. Resumo

72. Lynn HB, van Heerden JA. Rectal myectomy in Hirschsprung's disease: a decade of experience. Arch Surg. 1975;110:991-4. Resumo

73. Levitt MA, Hamrick MC, Eradi B, et al. Transanal, full-thickness, Swenson-like approach for Hirschsprung disease. J Pediatr Surg. 2013;48:2289-95. Resumo

74. Swenson O, Bill AH Jr. Resection of rectum and rectosigmoid with preservation of the sphincter for benign spastic lesions producing megacolon; an experimental study. Surgery. 1948 Aug;24(2):212-20.

75. 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 two approaches for Hirschsprung's disease. J Pediatr Surg. 2007;42:41-7. Resumo

76. Langer JC, Durrant AC, de la Torre L, et al. One-stage transanal Soave pullthrough for Hirschsprung's disease: a multi-center experience with 141 children. Ann Surg. 2003;238:569-76.Texto completo  Resumo

77. Yancey AG, Cromartie JE Jr, FORD JR, et al. A modification of the Swenson technique for congenital megacolon. J Natl Med Assoc. 1952 Sep;44(5):356-63.Texto completo

78. Woode D, Avansino J, Sawin R, et al. Asa G Yancey: the first to describe a modification of the Swenson technique for Hirschsprung disease. J Pediatr Surg. 2022 Aug;57(8):1701-3. Resumo

79. Chen Y, Nah SA, Laksmi NK, et al. Transanal endorectal pull-through versus transabdominal approach for Hirschsprung's disease: a systematic review and meta-analysis. J Pediatr Surg. 2013;48:642-51. Resumo

80. Duhamel B. A new operation for the treatment of Hirschsprung's disease. Arch Dis Child. 1960 Feb;35(179):38-9.Texto completo

81. Veras LV, Arnold M, Avansino JR, et al. Guidelines for synoptic reporting of surgery and pathology in Hirschsprung disease. J Pediatr Surg. 2019 Oct;54(10):2017-23.Texto completo  Resumo

82. Stenström P, Kyrklund K, Bräutigam M, et al. Total colonic aganglionosis: multicentre study of surgical treatment and patient-reported outcomes up to adulthood. BJS Open. 2020 Oct;4(5):943-53.Texto completo  Resumo

83. Swenson O, Bill AH. Resection of rectum and rectosigmoid with preservation of the sphincter for benign spastic lesions producing megacolon: an experimental study. Surgery. 1948;24:212.

84. Sandgren K, Ekblad E, Larsson LT. Survival of neurons and interstitial cells of Cajal after autotransplantation of myenteric ganglia from small intestine in the lethal spotted mouse. Pediatr Surg Int. 2000;16:272-6. Resumo

85. Hu H, Ding Y, Mu W, et al. DRG-derived neural progenitors differentiate into functional enteric neurons following transplantation in the postnatal colon. Cell Transplant. 2019 Feb;28(2):157-69.Texto completo  Resumo

86. Lai FP, Lau ST, Wong JK, et al. Correction of Hirschsprung-associated mutations in human induced pluripotent stem cells via clustered regularly interspaced short palindromic repeats/Cas9, restores neural crest cell function. Gastroenterology. 2017 Jul;153(1):139-53.Texto completo  Resumo

87. Rodríguez-Rodríguez DR, Ramírez-Solís R, Garza-Elizondo MA, et al. Genome editing: A perspective on the application of CRISPR/Cas9 to study human diseases (Review). Int J Mol Med. 2019 Apr;43(4):1559-74.Texto completo  Resumo

88. Ambartsumyan L, Patel D, Kapavarapu P, et al. Evaluation and management of postsurgical patient with Hirschsprung disease neurogastroenterology & motility committee: position paper of North American Society of Pediatric Gastroenterology, Hepatology, and Nutrition (NASPGHAN). J Pediatr Gastroenterol Nutr. 2023 Apr 1;76(4):533-46.Texto completo  Resumo

89. Langer JC, Rollins MD, Levitt M, et al. Guidelines for the management of postoperative obstructive symptoms in children with Hirschsprung disease. Pediatr Surg Int. 2017 May;33(5):523-6. Resumo

90. Saadai P, Trappey AF, Goldstein AM, et al. Guidelines for the management of postoperative soiling in children with Hirschsprung disease. Pediatr Surg Int. 2019 Aug;35(8):829-34. Resumo

91. Gunadi, Karina SM, Dwihantoro A. Outcomes in patients with Hirschsprung disease following definitive surgery. BMC Res Notes. 2018 Sep 4;11(1):644.Texto completo  Resumo

92. Stensrud KJ, Emblem R, Bjørnland K. Late diagnosis of Hirschsprung disease--patient characteristics and results. J Pediatr Surg. 2012 Oct;47(10):1874-9. Resumo

93. Pini Prato A, Erculiani M, Novi ML, et al. Delayed diagnosis in Hirschsprung disease. Pediatr Surg Int. 2024 Mar 4;40(1):65. Resumo

94. Allin BSR, Opondo C, Bradnock TJ, et al. Outcomes at five to eight years of age for children with Hirschsprung's disease. Arch Dis Child. 2021 Apr 21;106(5):484-90.Texto completo  Resumo

95. Dai Y, Deng Y, Lin Y, et al. Long-term outcomes and quality of life of patients with Hirschsprung disease: a systematic review and meta-analysis. BMC Gastroenterol. 2020 Mar 12;20(1):67.Texto completo  Resumo

96. Svetanoff WJ, Kapalu CL, Lopez JJ, et al. Psychosocial factors affecting quality of life in patients with anorectal malformation and Hirschsprung disease-a qualitative systematic review. J Pediatr Surg. 2022 Mar;57(3):387-93. Resumo

97. Meinds RJ, van der Steeg AFW, Sloots CEJ, et al. Long-term functional outcomes and quality of life in patients with Hirschsprung's disease. Br J Surg. 2019 Mar;106(4):499-507.Texto completo  Resumo

98. Harrington AW, Gasior AC, Einarsdottir H, et al. Hirschsprung disease: the rise of structured transition and long-term care. J Pediatr Gastroenterol Nutr. 2019 Sep;69(3):306-9. Resumo

99. Westfal ML, Okiemy O, Chung PHY, et al. Optimal timing for soave primary pull-through in short-segment Hirschsprung disease: a meta-analysis. J Pediatr Surg. 2022 Apr;57(4):719-25.Texto completo  Resumo

100. Wong MC, Avanzini S, Mosconi M, et al. Enterostomy-related complications in Hirschsprung's disease in a single cohort. Minerva Pediatr (Torino). 2023 Oct;75(5):711-8. Resumo

101. Sutthatarn P, Lapidus-Krol E, Smith C, et al. Hirschsprung-associated inflammatory bowel disease: a multicenter study from the APSA Hirschsprung disease interest group. J Pediatr Surg. 2023 May;58(5):856-61. Resumo

102. Ahmad H, Levitt MA, Yacob D, et al. Evaluation and management of persistent problems after surgery for Hirschsprung disease in a child. Curr Gastroenterol Rep. 2021 Oct 11;23(11):18. Resumo

103. Ahmad H, Yacob D, Halleran DR, et al. Evaluation and treatment of the post pull-through Hirschsprung patient who is not doing well; update for 2022. Semin Pediatr Surg. 2022 Apr;31(2):151164. Resumo

104. Mei F, Wu M, Zhao L, et al. Probiotics for the prevention of Hirschsprung-associated enterocolitis. Cochrane Database Syst Rev. 2022 Apr 26;4(4):CD013714.Texto completo  Resumo