Hirschsprung disease

Best, K. E. et al. Hirschsprung’s disease prevalence in Europe: a register based study. Birth Defects Res. A Clin. Mol. Teratol. 100, 695–702 (2014).

Article  CAS  PubMed  Google Scholar 

Kawaguchi, A. L. et al. Management and outcomes for long-segment Hirschsprung disease: a systematic review from the APSA Outcomes and Evidence Based Practice Committee. J. Pediatr. Surg. 56, 1513–1523 (2021).

Article  PubMed  PubMed Central  Google Scholar 

Fusaro, F. et al. Autologous intestinal reconstructive surgery in the management of total intestinal aganglionosis. J. Pediatr. Gastroenterol. Nutr. 68, 635–641 (2019).

Article  PubMed  Google Scholar 

Saxton, M. L., Ein, S. H., Hoehner, J. & Kim, P. C. W. Near-total intestinal aganglionosis: long-term follow-up of a morbid condition. J. Pediatr. Surg. 35, 669–672 (2000).

Article  CAS  PubMed  Google Scholar 

Chatterjee, S. & Chakravarti, A. A gene regulatory network explains RET–EDNRB epistasis in Hirschsprung disease. Hum. Mol. Genet. 28, 3137–3147 (2019).

Article  CAS  PubMed  PubMed Central  Google Scholar 

De Lorijn, F. et al. Diagnosis of Hirschsprung’s disease: a prospective, comparative accuracy study of common tests. J. Pediatr. 146, 787–792 (2005).

Article  PubMed  Google Scholar 

Swenson, O., Rheinlander, H. F. & Diamond, I. Hirschsprung’s disease; a new concept of the etiology – operative results in 34 patients. N. Engl. J. Med. 241, 551–556 (1949). This article is the first to report a successful surgical reconstruction technique for Hirschsprung disease, that is still the most performed technique nowadays.

Article  CAS  PubMed  Google Scholar 

Duhamel, B. New operation for congenital megacolon: retrorectal and transanal lowering of the colon, and its possible application to the treatment of various other malformations [French]. Presse Med. 64, 2249–2250 (1956).

CAS  Google Scholar 

Yancey, A. G., Cromartie, J. E., Ford, J. R., Nichols, R. R. & Saville, A. F. A modification of the Swenson technique for congenital megacolon. J. Natl Med. Assoc. 44, 356–363 (1952).

CAS  PubMed  PubMed Central  Google Scholar 

Woode, D. et al. Asa G Yancey: The first to describe a modification of the Swenson technique for Hirschsprung disease. J. Pediatr. Surg. 57, 1701–1703 (2022).

Article  PubMed  Google Scholar 

Soave, F. Hirschsprung’s disease: a new surgical technique. Arch. Dis. Child. 39, 116–124 (1964).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Rehbein, F. & Von Zimmermann, H. Results with abdominal resection in Hirschsprung’s disease. Arch. Dis. Child. 35, 29–37 (1960).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Smith, B. M., Steiner, R. B. & Lobe, T. E. Laparoscopic Duhamel pullthrough procedure for Hirschsprung’s disease in childhood. J. Laparoendosc. Surg. 4, 273–276 (1994).

Article  CAS  PubMed  Google Scholar 

Georgeson, K. E., Fuenfer, M. M. & Hardin, W. D. Primary laparoscopic pull-through for Hirschsprung’s disease in infants and children. J. Pediatr. Surg. 30, 1017–1022 (1995). This article reports a major advance in surgical management of Hirschsprung disease, with the use of minimally invasive surgery.

Article  CAS  PubMed  Google Scholar 

De la Torre-Mondragón, L. & Ortega-Salgado, J. A. Transanal endorectal pull-through for Hirschsprung’s disease. J. Pediatr. Surg. 33, 1283–1286 (1998).

Article  PubMed  Google Scholar 

Langer, J. C., Minkes, R. K., Mazziotti, M. V., Skinner, M. A. & Winthrop, A. L. Transanal one-stage Soave procedure for infants with Hirschsprung’s disease. J. Pediatr. Surg. 34, 148–152 (1999).

Article  CAS  PubMed  Google Scholar 

Rintala, R. J. & Pakarinen, M. P. Long-term outcomes of Hirschsprung’s disease. Semin. Pediatr. Surg. 21, 336–343 (2012).

Article  PubMed  Google Scholar 

Huerta, C. T. et al. Nationwide outcomes of newborns with rectosigmoid versus long-segment Hirschsprung disease. J. Pediatr. Surg. https://doi.org/10.1016/J.JPEDSURG.2023.01.001 (2023).

Article  PubMed  Google Scholar 

Kyrklund, K. et al. ERNICA guidelines for the management of rectosigmoid Hirschsprung’s disease. Orphanet J. Rare Dis. 15, 164 (2020).

Article  PubMed  PubMed Central  Google Scholar 

Chia, S. T., Chen, S. C., Lu, C. L., Sheu, S. M. & Kuo, H. C. Epidemiology of Hirschsprung’s disease in Taiwanese children: a 13-year nationwide population-based study. Pediatr. Neonatol. 57, 201–206 (2016).

Article  PubMed  Google Scholar 

Lof Granstrom, A. et al. Maternal risk factors and perinatal characteristics for Hirschsprung disease. Pediatrics 138, e20154608 (2016).

Article  PubMed  Google Scholar 

Tilghman, J. M. et al. Molecular genetic anatomy and risk profile of Hirschsprung’s disease. N. Engl. J. Med. 380, 1421–1432 (2019). This study provides insight into the complexity of Hirschsprung disease genetics and heritability.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Anderson, J. E. et al. Epidemiology of Hirschsprung disease in California from 1995 to 2013. Pediatr. Surg. Int. 34, 1299–1303 (2018).

Article  PubMed  Google Scholar 

Rajab, A., Freeman, N. V. & Patton, M. A. Hirschsprung’s disease in Oman. J. Pediatr. Surg. 32, 724–727 (1997).

Article  CAS  PubMed  Google Scholar 

Bradnock, T. J. et al. Hirschsprung’s disease in the UK and Ireland: incidence and anomalies. Arch. Dis. Child. 102, 722–727 (2017).

Article  CAS  PubMed  Google Scholar 

Taghavi, K. et al. Ethnic variations in the childhood prevalence of Hirschsprung disease in New Zealand. ANZ J. Surg. 89, 1246–1249 (2019).

Article  PubMed  Google Scholar 

Xiao, J. et al. Comprehensive characterization of the genetic landscape of familial Hirschsprung’s disease. World J. Pediatr. https://doi.org/10.1007/s12519-023-00686-x (2023).

Article  PubMed  PubMed Central  Google Scholar 

Goldberg, E. L. An epidemiological study of Hirschsprung’s disease. Int. J. Epidemiol. 13, 479–485 (1984).

Article  CAS  PubMed  Google Scholar 

Tam, P. K. Hirschsprung’s disease: a bridge for science and surgery. J. Pediatr. Surg. 51, 18–22 (2016).

Article  PubMed  Google Scholar 

Gunadi et al. NRG1 variant effects in patients with Hirschsprung disease. BMC Pediatr. 18, 292 (2018).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Fadista, J. et al. Genome-wide association study of Hirschsprung disease detects a novel low-frequency variant at the RET locus. Eur. J. Hum. Genet. 26, 561–569 (2018).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Emison, E. S. et al. Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability. Am. J. Hum. Genet. 87, 60–74 (2010).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Moore, S. W. Chromosomal and related Mendelian syndromes associated with Hirschsprung’s disease. Pediatr. Surg. Int. 28, 1045–1058 (2012).

Article  CAS  PubMed  Google Scholar 

Chen, Y. et al. The prevalence and clinical presentation of Hirschsprung’s disease in preterm infants: a systematic review and meta-analysis. Pediatr. Surg. Int. 38, 523–532 (2022).

Article  PubMed  Google Scholar 

Duess, J. W., Hofmann, A. D. & Puri, P. Prevalence of Hirschsprung’s disease in premature infants: a systematic review. Pediatr. Surg. Int. 30, 791–795 (2014).

Article  PubMed  Google Scholar 

Blencowe, H. et al. National, regional, and worldwide estimates of preterm birth rates in the year 2010 with time trends since 1990 for selected countries: a systematic analysis and implications. Lancet 379, 2162–2172 (2012).

Article  PubMed  Google Scholar 

Dershowitz, L. B., Li, L., Pasca, A. M. & Kaltschmidt, J. A. Anatomical and functional maturation of the mid-gestation human enteric nervous system. Nat. Commun. 14, 2680 (2023).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Amiel, J. et al. Hirschsprung disease, associated syndromes and genetics: a review. J. Med. Genet. 45, 1–14 (2008).

Article  CAS  PubMed  Google Scholar 

Friedmacher, F. & Puri, P. Hirsc

Comments (0)

No login
gif