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Hirschsprung’s disease in twins: a systematic review and meta-analysis

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Abstract

Aim of the study

Hirschsprung’s disease (HSCR) is known to occur in families. The reported overall incidence of familial cases is 7.6%, with a higher incidence of 15–21% in total colonic aganglionosis and 50% in the rare total intestinal aganglionosis. HSCR is extremely rare in twins. The aim of this study was to systematically analyse the patterns of HSCR in twins published in the literature.

Methods

Electronic databases Pubmed and Medline were screened for relevant articles using the keywords “Hirschsprung’s disease”, “aganglionosis”, “twins”, “monozygotic”, and “dizygotic”. Examining reference lists identified further relevant papers.

Main results

Twelve studies with a total of 18 twin pairs were included in this analysis. 67% twins were discordant. HSCR was found in 24 out of 36 twin subjects (67%), of which 83% affected were male. Rectosigmoid type was reported in 71% of patients, long-segment disease in 21, and 8% presented with a total aganglionosis. Three twin pairs had at least one family member affected with HSCR.

Conclusion

HSCR was found in two-thirds of twin subjects with a male predominance. Rectosigmoid aganglionosis was the most common variant. Disease discordance was identified, where environmental insults were postulated to be predisposing factors to disease expression. Future studies investigating the disease-associated mutations in the already identified HSCR genes should provide insights into the genetic basis of HSCR in twins.

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Authors and Affiliations

  1. Royal College of Surgeons, in Ireland, 123 St. Stephens Green, Dublin 2, Ireland

    D. Henderson

  2. National Children’s Research Centre, Our Lady’s Children’s Hospital, Crumlin, Dublin 12, Ireland

    J. Zimmer, H. Nakamura & Prem Puri

  3. Department of Pediatric Surgery, Hannover Medical School, Hannover, Germany

    J. Zimmer

  4. School of Medicine and Medical Science and Conway Institute of Biomolecular and Biomedical Research University College Dublin, Dublin, Ireland

    Prem Puri

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  1. D. Henderson
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  2. J. Zimmer
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  3. H. Nakamura
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  4. Prem Puri
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Correspondence to Prem Puri.

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Henderson, D., Zimmer, J., Nakamura, H. et al. Hirschsprung’s disease in twins: a systematic review and meta-analysis. Pediatr Surg Int 33, 855–859 (2017). https://doi.org/10.1007/s00383-017-4110-7

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