Contemporary management of Hirschsprung disease in New Zealand

Kiarash Taghavi, Lucy Goddard, Stephen M. Evans, Andrew Hobson, Spencer W. Beasley, Sasikumar Sankaran, Askar Kukkady, Jonathan Stevenson, Mark D. Stringer

Research output: Contribution to journalArticleResearchpeer-review

1 Citation (Scopus)

Abstract

Background: The aim of this study was to report the contemporary management of Hirschsprung disease (HD) in New Zealand. Methods: We undertook a national multi-centre retrospective review of all newly diagnosed cases of HD during a 16-year period (2000–2015). Demographics, genetic and syndromic associations, family history, radiology and histology results and surgical interventions were analysed. Results: A total of 246 cases (males:females 4:1) were identified, an incidence of 1:3870 live births. Short-segment disease was present in 81.7%, long-segment disease in 8.5%, total colonic aganglionosis in 6.5% and unknown in 3.3%. HD was diagnosed by 4 weeks' corrected gestational age in 67%. Thirty cases (12%) also had Trisomy 21. Fifty-three (21.5%) patients required a repeat rectal biopsy for definitive diagnosis. A contrast enema was performed in 55% and identified the transition zone with 69% accuracy. Primary pull-through surgery was undertaken in 59% (65% of short-segment cases) at a median age of 27 days; others were initially managed by a defunctioning stoma. The commonest definitive procedure was a Soave-Boley endorectal pull-through (79%) (or similar variant). During a median follow-up of 7.4 years, six (2.5%) survivors underwent a redo pull-through, 13 (5.5%) an appendicostomy, 16 (6.8%) a defunctioning stoma and 10 never had a definitive procedure. Total colonic aganglionosis was significantly more likely to be fatal (12.5% versus 0.5%, P < 0.0005) or associated with a permanent end stoma (27.5% versus 4.5%, P < 0.0005). Conclusions: Most New Zealand born infants with short-segment HD are currently managed by primary pull-through, usually in the first months of life.

Original languageEnglish
Pages (from-to)1037-1040
Number of pages4
JournalANZ Journal of Surgery
Volume90
Issue number6
DOIs
Publication statusPublished - 1 Jun 2020
Externally publishedYes

Keywords

  • contrast enema
  • endorectal pull-through
  • Hirschsprung disease
  • rectal suction biopsy
  • total colonic aganglionosis

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