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Contemporary management of Hirschsprung disease in New Zealand
Author(s) -
Taghavi Kiarash,
Goddard Lucy,
Evans Stephen M.,
Hobson Andrew,
Beasley Spencer W.,
Sankaran Sasikumar,
Kukkady Askar,
Stevenson Jonathan,
Stringer Mark D.
Publication year - 2020
Publication title -
anz journal of surgery
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.426
H-Index - 70
eISSN - 1445-2197
pISSN - 1445-1433
DOI - 10.1111/ans.15923
Subject(s) - medicine , stoma (medicine) , incidence (geometry) , hirschsprung's disease , enterocolitis , retrospective cohort study , surgery , trisomy , demographics , barium enema , pediatrics , disease , colonoscopy , colorectal cancer , cancer , physics , demography , sociology , biology , optics , genetics
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.