Abstract
The incidence of Hirschsprung’s disease, a congenital disease, has been investigated in many countries/states and areas using different methodologies. There is some difference in reported incidences from 1 in 3030 to 7163 live births, although mostly they range from 1 in 4000 to 5000. Even the earliest report about patients with the disease demonstrated the male predominance. Male to female ratios reported vary, but they are mostly estimated between 2 and 4. Hirschsprung’s disease can be best termed as congenital intestinal aganglionosis, and it has been known that the length of the affected intestine varies in each patient. Frequencies of each type of the disease have been described in most papers and patients with short-segment aganglionosis, which is defined as one limited to up to the sigmoid colon, and are most common although their frequencies somewhat vary from 57.7% to 87.1%. Patients with long-segment type are less frequent, and the reported frequencies range from 8.2% to 26.0%. Patients with the category of total colon aganglionosis or aganglionosis beyond the terminal ileum are least frequent, and their frequencies reported are less than 10%. It has been consistently reported in a large series of patients that male preponderance of the disease tends to decrease with increasing length of the aganglionic segment. Male to female ratios of patients with short segment have been reported to be from 3.4 to 5.4 while those of patients with longer than total colon affected to be around 2.0. Even the earliest report demonstrated familial incidence and risk of a sibling to have Hirschsprung’s disease. The highest reported is 8.2% and the lowest is 2.9%. Familial transmission of the disease is much higher than the incidence of general population. Risks of having a sibling with the disease are reported ranging from 1.8% to 5.9%. As for type and familial incidence, most of the non-familial patients have rectosigmoid type, and aganglionosis extended beyond the sigmoid colon tends to be more in familial patients especially total colon aganglionosis. There is an increased recurrence risk of siblings in cases with aganglionosis extending beyond the sigmoid colon. Trisomy 21, known as Down syndrome, is the most frequent chromosomal abnormality associated with Hirschsprung’s disease. According to the meta-analysis, incidence of Down syndrome in Hirschsprung’s disease is 7.75% although the incidences reported varied widely ranging from 0.64% to 16.25%. Chronologically, incidences of the disease with Down syndrome shown increased over 30 years in Japan but that in Taiwan decreased, which may reflect social circumstances.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
References
Swenson O, Holschneider AM. 1Chapter : “Historical review”. In: Holschneider AM, Puri P, editors. Hirschsprung’s disease and allied disorders. 2nd ed. Amsterdam: Harwood; 2000. p. 3–7.
Ein SH, Ein A. Chapter 29: Historical review of Hirschsprung’s disease. In: Raffensberger JG, editor. Children’s surgery -a worldwide history. Jefferson, NC: McFarland & Company; 2012.
Haubrich WS. Hirschsprung of Hirschsprung’s disease. Gastroenterology. 2004;127:1299.
Swenson O, Bill AH. Resection of rectum and rectosigmoid with preservation of sphincter for benign spastic lesions producing megacolon. Surgery. 1948;214:212–20.
Bodian M, Carter OO. A family study of Hirschsprung’s disease. Ann Hum Genet. 1963;26(3):261–77.
Passarge E. The genetics of H’s disease. Evidence for heterogeneous etiology and a study of sixty-three families. NEJM. 1967;276:138–43.
Mina AG, Guiney EJ. Hirschsprung’s disease. A review, a report, a reminder. Ir Med J. 1975;68(7):165–8.
Cram RW. Hirschsprung’s disease: long-term follow-up of 65 cases. Can J Surg. 1982;25(4):435–7.
Orr JD, Scobie WG. Presentation and incidence of Hirschsprung’s disease. Br Med J. 1983;287(6406):1671.
Goldberg EL. An epidemiological study of Hirschsprung’s disease. Int J Epidemiol. 1984;13(4):479–85.
Spouge D, Baird PA. Hirschsprung disease in a large birth cohort. Teratology. 1985;32(2):171–7.
Ikeda K, Goto S. Diagnosis and treatment of Hirschsprung’s disease in Japan. An analysis of 1628 patients. Ann Surg. 1984;199(4):400–5.
Suita S, Taguchi T, Ieiri S, Nakatsuji T. Hirschsprung’s disease in Japan: analysis of 3852 patients based on a nationwide survey in 30 years. J Pediatr Surg. 2005;40(1):197–202.
Russell MB, Russell CA, Niebuhr E. An epidemiological study of Hirschsprung’s disease and additional anomalies. Acta Paediatr. 1994;83(1):68–71.
Rajab A, Freeman NV, Patton MA. Hirschsprung’s disease in Oman. J Pediatr Surg. 1997;32(5):724–7.
Meza-Valencia BE, de Lorimier AJ, Person DA. Hirschsprung disease in the U.S. associated Pacific Islands: more common than expected. Hawaii Med J. 2005;64(4):96–8.. 100–1
Koh CE, Yong TL, Fenton EJM. Hirschsprung’s disease: a regional experience. ANZ J Surg. 2008;78(11):1023–7.
Schoellhorn J, Collins S. False positive reporting of Hirschsprung’s disease in Alaska: an evaluation of Hirschsprung’s disease surveillance, birth years 1996–2007. Birth Defects Res A Clin Mol Teratol. 2009;85(11):914–9.
Best KE, Glinianaia SV, Bythell M, Rankin J. Hirschsprung’s disease in the North of England: prevalence, associated anomalies, and survival. Birth Defects Res A Clin Mol Teratol. 2012;94(6):477–80.
Bradnock TJ, Knight M, Kenny S, Nair M, Walker GM. Hirschsprung’s disease in the UK and Ireland: incidence and anomalies. Arch Dis Child. 2017;102(8):722–7.
Downey EC, Hughes E, Putnam AR, Baskin HJ, Rollins MD. Hirschsprung disease in the premature newborn: a population based study and 40-year single center experience. J Pediatr Surg. 2015;50(1):123–5.
Taguchi T, Obata S, Ieiri S. Current status of Hirschsprung’s disease: based on a nationwide survey of Japan. Pediatr Surg Int. 2017;33(4):497–504.
Chia S-T, Chen SC-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. 2016;57(3):201–6.
Garver KL, Law JC, Garver B. Hirschsprung disease: a genetic study. Clin Genet. 1985;28(6):503–8.
Kleinhaus S, Boley SJ, Sheran M, Sieber WK. Hirschsprung’s disease a survey of the members of the Surgical Section of the American Academy of Pediatrics. J Pediatr Surg. 1979;14(5):588–97.
Mabula JB, Kayange NM, Manyama M, Chandika AB, Rambau PF, Chalya PL. Hirschsprung’s disease in children: a five year experience at a University Teaching Hospital in northwestern Tanzania. BMC Res Notes. 2014;7(1):410F.
Bandré E, Kaboré RAF, Ouedraogo I, Soré O, Tapsoba T, Bambara C, Wandaogo A. Hirschsprung’s disease: management problem in a developing country. Afr J Paediatr Surg. 2010;7(3):166–8.
Singh SJ, Croaker GDH, Manglick P, Wong CL, Athanasakos H, Elliott E, Cass D. Hirschsprung’s disease: The Australian Paediatric Surveillance Unit’s experience. Pediatr Surg Int. 2003;19(4):247–50.
Jung PM. Hirschsprung’s disease: one surgeon’s experience in one institution. J Pediatr Surg. 1995;30(5):646–51.
Klein MD, Philippart AI. Hirschsprung’s disease: three decades’ experience at a single institution. J Pediatr Surg. 1993;28(10):1291–4.
Badner JA, Sieber WK, Garver KL, et al. A genetic study of Hirschsprung disease. Am J Hum Genet. 1990;46(3):568–80.
Foster P, Cowan G, Wrenn EL Jr. Twenty-five years’ experience with Hirschsprung’s disease. J Pediatr Surg. 1990;25(5):531–4.
Boley SJ, Dinari G, Cohen MI. Hirschsprung’s disease in the newborn. Clin Perinatol. 1978;5(1):45–60.
Davidson M, Bauer CH. Studies of distal colonic motility in children. IV. Achalasia of the distal rectal segment despite presence of ganglia in the myenteric plexuses of this area. Pediatrics. 1958;21:746–61.
Bentley JFR. Some new observation on megacolon in infancy and childhood with special reference to the management of megasigmoid and megarectum. Dis Colon Rectum. 1964;7:462–70.
Swenson O, Sherman JO, Fisher JH, Cohen E. The treatment and postoperative complications of congenital megacolon: a 25 year followup. Ann Surg. 1975;182(3):266–73.
Moore SW, Rode H, Millar AJW, Albertyn R, Cywes S. Familial aspects of Hirschsprung’s disease. Eur J Pediatr Surg. 1991;1(2):97–101.
Friedmacher F, Puri P. Hirschsprung’s disease associated with Down syndrome: a meta-analysis of incidence, functional outcomes and mortality. Pediatr Surg Int. 2013;29(9):937–46.
Cleves MA, Hobbs CA, Cleves PA, et al. Congenital defects among liveborn infants with Down syndrome. Birth Defects Res A Clin Mol Teratol. 2007;79(9):657–63.
Ieiri S, Higashi M, Teshiba R, Saeki I, Esumi G, Akiyoshi J, Nakatsuji T, Taguchi T. Clinical features of Hirschsprung’s disease associated with Down syndrome: a 30-year retrospective nationwide survey in Japan. J Pediatr Surg. 2009;44(12):2347–51.
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2019 Springer Nature Singapore Pte Ltd.
About this chapter
Cite this chapter
Ueno, S. (2019). Incidence and Sexual Difference. In: Taguchi, T., Matsufuji, H., Ieiri, S. (eds) Hirschsprung’s Disease and the Allied Disorders. Springer, Singapore. https://doi.org/10.1007/978-981-13-3606-5_7
Download citation
DOI: https://doi.org/10.1007/978-981-13-3606-5_7
Published:
Publisher Name: Springer, Singapore
Print ISBN: 978-981-13-3605-8
Online ISBN: 978-981-13-3606-5
eBook Packages: MedicineMedicine (R0)