Taghavi Kiarash, Goddard Lucy, Evans Stephen M, Hobson Andrew, Beasley Spencer W, Sankaran Sasikumar, Kukkady Askar, Stevenson Jonathan, Stringer Mark D
Department of Paediatric Surgery and Urology, Starship Children's Health, Auckland, New Zealand.
Department of Surgery, The University of Auckland, Auckland, New Zealand.
ANZ J Surg. 2019 Oct;89(10):1246-1249. doi: 10.1111/ans.14857. Epub 2018 Oct 3.
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.
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.
A total of 246 cases of HD were identified. The prevalence of HD was 1:3790 live births for European, 1:6610 among Māori, 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.
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.
流行病学研究表明，先天性巨结肠（HD）的患病率可能存在种族差异，但尚无研究系统地调查这一问题或HD中无神经节细胞症范围的潜在种族差异。本研究旨在对新西兰儿童群体进行调查。
对新西兰四个儿科手术中心在16年期间（2000年1月至2015年12月）所有新诊断的HD病例进行多中心全国性回顾性研究。获取并分析原始组织学、放射学和手术报告。从入院文件中记录自我认定的种族。出生统计数据来自新西兰统计局。
共确定246例HD病例。HD的患病率在欧洲人为1:3790活产，毛利人为1:6610，太平洋岛民为1:1834，亚洲人为1:3847，中东人为1:5694。太平洋岛民中HD的患病率在统计学上显著更高（P＜0.0005）。太平洋岛民和亚洲人群中长段HD患儿的比例也显著高于其他人群（P = 0.04）。这些发现并非由于不同人群中HD家族病例比例的差异。
HD的患病率和表型在新西兰不同种族群体之间存在显著差异。这很可能与这些人群中HD相关基因突变频率的差异有关。
