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Pediatric Surgery International

, Volume 31, Issue 9, pp 821–830 | Cite as

Rectal suction biopsy for the diagnosis of Hirschsprung’s disease: a systematic review of diagnostic accuracy and complications

  • Florian Friedmacher
  • Prem Puri
Original Article

Abstract

Purpose

Rectal suction biopsy (RSB) combined with acetylcholinesterase (AChE) staining is currently the gold standard for the diagnosis of Hirschsprung’s disease (HD). However, some pathologists are still reluctant to diagnose HD in RSBs as it requires thick submucosal tissue to confirm the absence of ganglion cells. Furthermore, insufficient specimens and adverse events have been reported. The objective of this study was to determine the diagnostic accuracy and incidence of complications of RSBs in patients suspected of HD based on a systematic review of the published literature.

Methods

A literature-based search for relevant publications was conducted using multiple online databases. Staining for AChE/hematoxylin and eosin should have been used to evaluate RSBs. The number of true-positive, false-positive, true-negative and false-negative results was recorded and data on RSB-related complications was extracted. Pooled incidence rates and odds ratios (ORs) with 95 % confidence intervals (CI) were calculated using standardized statistical methodology.

Results

Fifty-eight studies met defined inclusion criteria, reporting a total of 14,053 RSBs. The median cohort size consisted of 72 patients (range 1–766) with a median age of 14.4 months (range 1 day–66 years) at time of biopsy. In 89.93 % (CI 89.11–90.70 %), RSB provided adequate tissue for the diagnosis of HD. Insufficient specimens were obtained in 10.07 % (CI 9.30–10.89 %) and in 8.46 % (CI 7.55–9.46 %) RSB was repeated. The incidence of HD was 19.13 % (CI 18.25–20.03 %). Mean sensitivity of RSB was 96.84 % (CI 95.57–97.47 %) and mean specificity was 99.42 % (CI 99.17–99.57 %). The overall complication rate was 0.65 % (CI 0.46–0.91 %) with persistent rectal bleeding requiring blood transfusion in 0.53 % (CI 0.36–0.77 %), bowel perforation in 0.06 % (CI 0.02–0.18 %) and pelvic sepsis in 0.06 % (CI 0.02–0.18 %). Complications were significantly more frequent in newborns and infants compared to older children (OR 9.00 [CI 4.75–17.07], p < 0.0001).

Conclusions

RSB combined with AChE staining is a simple, safe and accurate method for the diagnosis of HD. The risk for RSB-related complications is higher in newborns and infants.

Keywords

Hirschsprung disease Rectal suction biopsy Acetylcholinesterase Diagnosis Complication 

Notes

Acknowledgments

The authors thank the medical staff librarians at Our Lady’s Children’s Hospital, Crumlin for their outstanding support in the literature search process for this manuscript: Suzanne Feeney, MA, DLIS; Jane Doyle, BA, Dip.LIS and Caitríona Lee, B.Sc., H.Dip., MLIS.

Conflict of interest

The authors declare that this research was conducted in the absence of any commercial or financial relationships that could be constructed as a potential conflict of interest.

References

  1. 1.
    Best KE, Addor MC, Arriola L et al (2014) Hirschsprung’s disease prevalence in Europe: a register based study. Birth Defects Res A Clin Mol Teratol 100(9):695–702CrossRefPubMedGoogle Scholar
  2. 2.
    Best KE, Glinianaia SV, Bythell M et al (2012) Hirschsprung’s disease in the North of England: prevalence, associated anomalies, and survival. Birth Defects Res A Clin Mol Teratol 94(6):477–480CrossRefPubMedGoogle Scholar
  3. 3.
    Martucciello G (2008) Hirschsprung’s disease, one of the most difficult diagnoses in pediatric surgery: a review of the problems from clinical practice to the bench. Eur J Pediatr Surg 18(3):140–149CrossRefPubMedGoogle Scholar
  4. 4.
    Barshack I, Fridman E, Goldberg I et al (2004) The loss of calretinin expression indicates aganglionosis in Hirschsprung’s disease. J Clin Pathol 57(7):712–716PubMedCentralCrossRefPubMedGoogle Scholar
  5. 5.
    Meier-Ruge W, Lutterbeck PM, Herzog B et al (1972) Acetylcholinesterase activity in suction biopsies of the rectum in the diagnosis of Hirschsprung’s disease. J Pediatr Surg 7(1):11–17CrossRefPubMedGoogle Scholar
  6. 6.
    Dobbins WO 3rd, Bill AH Jr (1965) Diagnosis of Hirschsprung’s disease excluded by rectal suction biopsy. Engl J Med. 272(13):990–993CrossRefGoogle Scholar
  7. 7.
    Noblett HR (1969) A rectal suction biopsy tube for use in the diagnosis of Hirschsprung’s disease. J Pediatr Surg 4(4):406–409CrossRefPubMedGoogle Scholar
  8. 8.
    Martucciello G, Pini Prato A, Puri P et al (2005) 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 40(10):1527–1531CrossRefPubMedGoogle Scholar
  9. 9.
    Qualman SJ, Jaffe R, Bove KE et al (1999) Diagnosis of Hirschsprung disease using the rectal biopsy: multi-institutional survey. Pediatr Dev Pathol 2(6):588–596CrossRefPubMedGoogle Scholar
  10. 10.
    Knowles CH, De Giorgio R, Kapur RP et al (2010) The London Classification of gastrointestinal neuromuscular pathology: report on behalf of the Gastro 2009 International Working Group. Gut 59(7):882–887CrossRefPubMedGoogle Scholar
  11. 11.
    Hall NJ, Kufeji D, Keshtgar A (2009) Out with the old and in with the new: a comparison of rectal suction biopsies with traditional and modern biopsy forceps. J Pediatr Surg 44(2):395–398CrossRefPubMedGoogle Scholar
  12. 12.
    Rees BI, Azmy A, Nigam M et al (1983) Complications of rectal suction biopsy. J Pediatr Surg 18(3):273–275CrossRefPubMedGoogle Scholar
  13. 13.
    Alizai NK, Batcup G, Dixon MF et al (1998) Rectal biopsy for Hirschsprung’s disease: what is the optimum method? Pediatr Surg Int 13(2–3):121–124CrossRefPubMedGoogle Scholar
  14. 14.
    Campbell PE, Noblett HR (1969) Experience with rectal suction biopsy in the diagnosis of Hirschsprung’s disease. J Pediatr Surg 4(4):410–415CrossRefPubMedGoogle Scholar
  15. 15.
    Elema JD, de Vries JA, Vos LJ (1973) Intensity and proximal extension of acetylcholinesterase activity in the mucosa of the rectosigmoid in Hirschsprung’s disease. J Pediatr Surg 8(3):361–368CrossRefPubMedGoogle Scholar
  16. 16.
    Yunis EJ, Dibbins AW, Sherman FE (1976) Rectal suction biopsy in the diagnosis of Hirschsprung disease in infants. Arch Pathol Lab Med 100(6):329–333PubMedGoogle Scholar
  17. 17.
    Weintraub WH, Heidelberger KP, Coran AG (1977) A simplified approach to diagnostic rectal biopsy in infants and children. Am J Surg 134(2):307–310CrossRefPubMedGoogle Scholar
  18. 18.
    Chow CW, Chan WC, Yue PC (1977) Histochemical criteria for the diagnosis of Hirschsprung’s disease in rectal suction biopsies by acetylcholinesterase activity. J Pediatr Surg 12(5):675–680CrossRefPubMedGoogle Scholar
  19. 19.
    Toorman J, Bots GT, Vio PM (1977) Acetylcholinesterase-activity in rectal mucosa of children with obstipation. Virchows Arch A Pathol Anat Histol 376(2):159–164CrossRefPubMedGoogle Scholar
  20. 20.
    Lake BD, Puri P, Nixon HH et al (1978) Hirschsprung’s disease: an appraisal of histochemically demonstrated acetylcholinesterase activity in suction rectal biopsy specimens as an aid to diagnosis. Arch Pathol Lab Med 102(5):244–247PubMedGoogle Scholar
  21. 21.
    Almoyna CM, Claver M, Monereo J et al (1978) Histochemical criteria for the diagnosis of Hirschsprung’s disease in rectal suction biopsies by acetylcholinesterase activity. J Pediatr Surg 13(3):351–352CrossRefPubMedGoogle Scholar
  22. 22.
    Andrassy RJ, Isaacs H, Weitzman JJ (1981) Rectal suction biopsy for the diagnosis of Hirschsprung’s disease. Ann Surg 193(4):419–424PubMedCentralCrossRefPubMedGoogle Scholar
  23. 23.
    Huntley CC, Shaffner LD, Challa VR et al (1982) Histochemical diagnosis of Hirschsprung disease. Pediatrics 69(6):755–761PubMedGoogle Scholar
  24. 24.
    Wakely PE Jr, McAdams AJ (1984) Acetylcholinesterase histochemistry and the diagnosis of Hirschsprung’s disease: a 31/2-year experience. Pediatr Pathol. 2(1):35–46CrossRefPubMedGoogle Scholar
  25. 25.
    Goto S, Ikeda K, Toyohara T (1984) Histochemical confirmation of the acetylcholinesterase-activity in rectal suction biopsy from neonates with Hirschsprung’s disease. Z Kinderchir 39(4):246–249PubMedGoogle Scholar
  26. 26.
    Loening-Baucke V, Pringle KC, Ekwo EE (1985) Anorectal manometry for the exclusion of Hirschsprung’s disease in neonates. J Pediatr Gastroenterol Nutr 4(4):596–603CrossRefPubMedGoogle Scholar
  27. 27.
    Barr LC, Booth J, Filipe MI et al (1985) Clinical evaluation of the histochemical diagnosis of Hirschsprung’s disease. Gut 26(4):393–399PubMedCentralCrossRefPubMedGoogle Scholar
  28. 28.
    Polley TZ Jr, Coran AG, Heidelberger KP et al (1986) Suction rectal biopsy in the diagnosis of Hirschsprung’s disease and chronic constipation. Pediatr Surg Int 1(2):84–89CrossRefGoogle Scholar
  29. 29.
    Kurer MH, Lawson JO, Pambakian H (1986) Suction biopsy in Hirschsprung’s disease. Arch Dis Child 61(1):83–84PubMedCentralCrossRefPubMedGoogle Scholar
  30. 30.
    Yaxiong S, Chengren S (1986) Clinical evaluation of diagnostic methods for Hirschsprung’s disease. Pediatr Surg Int 1(4):218–222CrossRefGoogle Scholar
  31. 31.
    Taxman TL, Yulish BS, Rothstein FC (1986) How useful is the barium enema in the diagnosis of infantile Hirschsprung’s disease? Am J Dis Child 140(9):881–884PubMedGoogle Scholar
  32. 32.
    Wells FE, Addison GM (1986) Acetylcholinesterase activity in rectal biopsies: an assessment of its diagnostic value in Hirschsprung’s disease. J Pediatr Gastroenterol Nutr 5(6):912–919CrossRefPubMedGoogle Scholar
  33. 33.
    Bonham JR, Dale G, Scott DJ et al (1987) A 7-year study of the diagnostic value of rectal mucosal acetylcholinesterase measurement in Hirschsprung’s disease. J Pediatr Surg 22(2):150–152CrossRefPubMedGoogle Scholar
  34. 34.
    de Brito IA, Maksoud JG (1987) Evolution with age of the acetylcholinesterase activity in rectal suction biopsy in Hirschsprung’s disease. J Pediatr Surg 22(5):425–430CrossRefPubMedGoogle Scholar
  35. 35.
    Chen CL, Hsu HC, Chen CC et al (1987) Acetylcholinesterase activity in rectal suction biopsy for the diagnosis of Hirschsprung’s disease. Taiwan Yi Xue Hui Za Zhi 86(7):723–727PubMedGoogle Scholar
  36. 36.
    Jani BR, Brereton RJ, Dillon MJ (1989) Peripheral limb gangrene following rectal biopsy. Treatment with prostacyclin and exchange transfusion. Clin Pediatr 28(12):585–588CrossRefGoogle Scholar
  37. 37.
    Athow AC, Filipe MI, Drake DP (1990) Problems and advantages of acetylcholinesterase histochemistry of rectal suction biopsies in the diagnosis of Hirschsprung’s disease. J Pediatr Surg 25(5):520–526CrossRefPubMedGoogle Scholar
  38. 38.
    Schofield DE, Devine W, Yunis EJ (1990) Acetylcholinesterase-stained suction rectal biopsies in the diagnosis of Hirschsprung’s disease. J Pediatr Gastroenterol Nutr 11(2):221–228CrossRefPubMedGoogle Scholar
  39. 39.
    Smith GHH, Cass D (1991) Infantile Hirschsprung’s disease—is barium enema useful? Pediatr Surg Int 6(4–5):318–321Google Scholar
  40. 40.
    Park WH, Choi SO, Kwon KY et al (1992) Acetylcholinesterase histochemistry of rectal suction biopsies in the diagnosis of Hirschsprung’s disease. J Korean Med Sci 7(4):353–359PubMedCentralCrossRefPubMedGoogle Scholar
  41. 41.
    Cusick EL, Buick RG (1995) Injury to the common iliac artery during suction rectal biopsy. J Pediatr Surg 30(1):111–112CrossRefPubMedGoogle Scholar
  42. 42.
    Schmittenbecher PP, Schmidt A, Meier-Ruge W et al (1995) Rectal suction biopsy: can it be sufficient to diagnose neuronal intestinal dysplasia? Eur J Pediatr Surg 5(5):277–279CrossRefPubMedGoogle Scholar
  43. 43.
    Freeman JK (1997) A new instrument for suction rectal biopsy in the diagnosis of Hirschsprung’s disease. Pediatr Surg Int 12(1):76–77CrossRefPubMedGoogle Scholar
  44. 44.
    Ghosh A, Griffiths DM (1998) Rectal biopsy in the investigation of constipation. Arch Dis Child 79(3):266–268PubMedCentralCrossRefPubMedGoogle Scholar
  45. 45.
    Pini Prato A, Martucciello G, Jasonni V (2001) Solo-RBT: a new instrument for rectal suction biopsies in the diagnosis of Hirschsprung’s disease. J Pediatr Surg 36(9):1364–1366CrossRefPubMedGoogle Scholar
  46. 46.
    Kobayashi H, Li Z, Yamataka A et al (2002) Rectal biopsy: what is the optimal procedure? Pediatr Surg Int 18(8):753–756PubMedGoogle Scholar
  47. 47.
    Khan AR, Vujanic GM, Huddart S (2003) The constipated child: how likely is Hirschsprung’s disease? Pediatr Surg Int 19(6):439–442CrossRefPubMedGoogle Scholar
  48. 48.
    De Lorijn F, Reitsma JB, Voskuijl WP et al (2005) Diagnosis of Hirschsprung’s disease: a prospective, comparative accuracy study of common tests. J Pediatr 146(6):787–792CrossRefPubMedGoogle Scholar
  49. 49.
    Gugelmin ES, Torres LFB (2005) The accuracy of acetylcholinesterase reaction in rectal suction biopsy in the diagnosis of Hirschsprung’s disease. J Bras Pathol Med Lab. 4(6):431–436Google Scholar
  50. 50.
    Pini-Prato A, Martucciello G, Jasonni V (2006) Rectal suction biopsy in the diagnosis of intestinal dysganglionoses: 5-year experience with Solo-RBT in 389 patients. J Pediatr Surg 41(6):1043–1048CrossRefPubMedGoogle Scholar
  51. 51.
    Ali AE, Morecroft JA, Bowen JC et al (2006) Wall or machine suction rectal biopsy for Hirschsprung’s disease: a simple modified technique can improve the adequacy of biopsy. Pediatr Surg Int 22(8):681–682CrossRefPubMedGoogle Scholar
  52. 52.
    Barlas M (2006) A new instrument for rectal suction biopsy in the diagnosis of Hirschsprung’s disease: triple rectal suction biopsy. J Indian Assoc Pediatr Surg 11(4):253–254CrossRefGoogle Scholar
  53. 53.
    Pini-Prato A, Avanzini S, Gentilino V et al (2007) Rectal suction biopsy in the workup of childhood chronic constipation: indications and diagnostic value. Pediatr Surg Int 23(2):117–122CrossRefPubMedGoogle Scholar
  54. 54.
    Croffie JM, Davis MM, Faught PR et al (2007) At what age is a suction rectal biopsy less likely to provide adequate tissue for identification of ganglion cells? J Pediatr Gastroenterol Nutr 44(2):198–202CrossRefPubMedGoogle Scholar
  55. 55.
    Santos MM, Tannuri U, Coelho MC (2008) Study of acetylcholinesterase activity in rectal suction biopsy for diagnosis of intestinal dysganglionoses: 17-year experience of a single center. Pediatr Surg Int 24(6):715–719CrossRefPubMedGoogle Scholar
  56. 56.
    Montedonico S, Piotrowska AP, Rolle U et al (2008) Histochemical staining of rectal suction biopsies as the first investigation in patients with chronic constipation. Pediatr Surg Int 24(7):785–792CrossRefPubMedGoogle Scholar
  57. 57.
    Rahman N, Chouhan J, Gould S et al (2010) Rectal biopsy for Hirschsprung’s disease–are we performing too many? Eur J Pediatr Surg 20(2):95–97CrossRefPubMedGoogle Scholar
  58. 58.
    Noviello C, Cobellis G, Romano M et al (2010) Diagnosis of Hirschsprung’s Disease: an age-related approach in children below or above one year. Colorectal Dis 12(10):1044–1048CrossRefPubMedGoogle Scholar
  59. 59.
    Pini-Prato A, Carlini C, Pesce F et al (2011) Massive bleeding after rectal suction biopsy: uncommon and unexpected delayed onset. World J Pediatr 7(1):83–85CrossRefPubMedGoogle Scholar
  60. 60.
    Campeotto F, Barbet PJ, Kalach N et al (2011) Deeper rectal biopsies and better yield of neuronal structures with Scheye vs Noblett forceps–preliminary results. J Pediatr Surg 46(3):478–481CrossRefPubMedGoogle Scholar
  61. 61.
    Skerritt C, Rees C, Lakhoo K (2011) Audit of adequacy of rectal suction biopsies using a new rectal biopsy gun. OJCA 3(2):1Google Scholar
  62. 62.
    Hayes CE, Kawatu D, Mangray S et al (2012) Rectal suction biopsy to exclude the diagnosis of Hirschsprung disease. J Pediatr Gastroenterol Nutr 55(3):268–271CrossRefPubMedGoogle Scholar
  63. 63.
    Sharp NE, Pettiford-Cunningham J, Shah SR et al (2013) The prevalence of Hirschsprung disease in premature infants after suction rectal biopsy. J Surg Res 184(1):374–377CrossRefPubMedGoogle Scholar
  64. 64.
    Dahshan A (2014) Serious rectal bleeding complicating suction rectal biopsy in a child. W V Med J 110(2):34–35PubMedGoogle Scholar
  65. 65.
    de Lorijn F, Kremer LC, Reitsma JB et al (2006) Diagnostic tests in Hirschsprung disease: a systematic review. J Pediatr Gastroenterol Nutr 42(5):496–505CrossRefPubMedGoogle Scholar
  66. 66.
    Lewis NA, Levitt MC, Zallen GS et al (2003) Diagnosing Hirschsprung’s disease: increasing the odds of a positive rectal biopsy result. J Pediatr Surg 38(3):412–416CrossRefPubMedGoogle Scholar
  67. 67.
    Simpson BB, Ryan DP, Schnitzer JJ et al (1996) Surgical evaluation and management of refractory constipation in older children. J Pediatr Surg 31(8):1040–1042CrossRefPubMedGoogle Scholar
  68. 68.
    Wheatley MJ, Wesley JR, Coran AG et al (1990) Hirschsprung’s disease in adolescents and adults. Dis Colon Rectum 33(7):622–629CrossRefPubMedGoogle Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 2015

Authors and Affiliations

  1. 1.National Children’s Research CentreOur Lady’s Children’s HospitalDublinIreland
  2. 2.Department of Pediatric and Adolescent SurgeryMedical University GrazGrazAustria
  3. 3.Conway Institute of Biomolecular and Biomedical Research, School of Medicine & Medical ScienceUniversity College DublinDublinIreland

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