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.
Subject(s)
Digestive System Surgical Procedures , Hirschsprung Disease , Surgical Stomas , Female , Hirschsprung Disease/diagnosis , Hirschsprung Disease/epidemiology , Hirschsprung Disease/surgery , Humans , Infant , Male , New Zealand/epidemiology , Postoperative Complications , Rectum/surgery , Retrospective StudiesABSTRACT
BACKGROUND: Epidemiological studies have suggested that there may be ethnic variations in the prevalence of Hirschsprung disease (HD) but no study has systematically investigated this issue or potential ethnic variations in the extent of aganglionosis in HD. This study aimed to investigate this in a childhood population in New Zealand. METHODS: A multicentre national retrospective review was undertaken of all newly diagnosed cases of HD at each of the four paediatric surgical centres in New Zealand over a 16-year period (January 2000 to December 2015). Original histological, radiological and operative reports were obtained and analysed. Self-identified ethnicity was recorded from admission documents. Birth statistics were obtained from Statistics New Zealand. RESULTS: A total of 246 cases of HD were identified. The prevalence of HD was 1:3790 live births for European, 1:6610 among Maori, 1:1834 among Pacific Peoples, 1:3847 among Asian and 1:5694 among Middle Eastern. The prevalence of HD was statistically significantly greater in Pacific Peoples (P < 0.0005). The proportion of children with long-segment HD was also significantly greater in Pacific and Asian populations than others (P = 0.04). These findings were not due to differences in the proportion of familial cases of HD among the different populations. CONCLUSIONS: The prevalence and phenotype of HD varies significantly between different ethnic groups within New Zealand. This may well be related to variations in the frequencies of HD-associated gene mutations within these populations.
