Hirschsprung’s disease: current state of the problem, clinical observation
https://doi.org/10.21886/2712-8156-2025-6-2-101-105
Abstract
Hirschsprung's disease (HD) (congenital agangliosis of the colon) was isolated into an independent nosological unit in 1886 by the Copenhagen pediatrician Hirschsprung. This disease is diagnosed in children and adults. To date, the etiology and mechanisms of HD disease development have been revealed, effective methods of diagnosis, surgical treatment and conservative management of patients have been developed. Treatment can significantly improve the prognosis and quality of life of patients. The clinical observation of a patient with HD who underwent surgical treatment 16 years after the disease was detected is presented.
About the Authors
A. T. MarinchukRussian Federation
Alexander T. Marinchuk, Cand. Sci. (Med.), Associate Professor of the Department of Internal Diseases No. 1
Rostov-on-Don
E. S. Pak
Russian Federation
Ekaterina S. Pak, Cand. Sci. (Med.), Assistant of the Department of Reconstructive, Cardiovascular, Thoracic, Maxillofacial Surgery and Organ Transplantation; Head of the Gastroenterology Department, of the Regional Center of Surgery and Donor Coordination
Rostov-on-Don
T. M. Petrova
Russian Federation
Tatyana M. Petrova, gastroenterologist of the Gastroenterology Department, of the Regional Center of Surgery and Donor Coordination
Rostov-on-Don
A. S. Kharkov
Russian Federation
Alexander S. Kharkov, Cand. Sci. (Med.), Associate Professor of the Department of Internal Diseases No. 1
Rostov-on-Don
O. V. Bukhtin
Russian Federation
Oleg V. Bukhtin, Therapist of the Gastroenterological Department of the Center for Surgery and Donation Coordination (regional)
Rostov-on-Don
References
1. Vorob'ev G.I., Zhuchenko A.P., Achkasov S.I., Biryukov O.M. Bolezn' Girshprunga u vzros lykh: 25-letnii opyt kliniki. Aktual'nye voprosy koloproktologii. Samara; 2003. (In Russ.)
2. Vavilova T.I., Vorob'ev G.I., Zhuchenko A.P. Gistokhimicheskaya diagnostika bolezni Girsh prunga. Khirurgiya.1986;(3):15-22. (In Russ.)
3. Deineka I.YA. Mnogotomnoe rukovodstvo po khirurgii. T VII. Povrezhdeniya i zabolevaniya tolstoi kishki. Medgiz; 1960. (In Russ.)
4. Hanneman MJ, Sprangers MA, De Mik EL, Ernest van Heurn LW, De Langen ZJ, Looyaard N, et al. Quality of life in patients with anorectal malformation or Hirschsprung's disease: development of a disease-specific questionnaire. Dis Colon Rectum. 2001;44(11):1650-1660. doi: 10.1007/BF02234386
5. Vorob'ev G.I., Achkasov S.I. Bolezn' Girshprunga u vzroslykh: prakticheskoe rukovodstvo. Moscow: Litterra, 2009. (In Russ.)
6. Vorob'ev G.I., Zhuchenko A.P., Efremov A.V. Pozdnie oslozhneniya posle operatsii Dyuamelya po povodu bolezni Girshprunga u vzroslykh. Problemy Proktologii. 1991;(12): 58-62. (In Russ.)
7. Kaiser G. Disoders and congenital malformations associated with Hirschsprung''s dis ease. 1982.
8. Torroglosa A, Villalba-Benito L, Luzón-Toro B, Fernández RM, Antiñolo G, Borrego S. Epigenetic Mechanisms in Hirschsprung Disease. Int J Mol Sci. 2019;20(13):3123. doi: 10.3390/ijms20133123
9. Amiñoso C, García-Miñaúr S, Martínez L, Tenorio JA, Tovar JA, Lapunzina P, et al. Re currence of Hirschsprung disease due to maternal mosaicism of a novel RET gene mutation. Clin Genet. 2014;85(4):401-402. doi: 10.1111/cge.12163
10. Borrego S, Ruiz-Ferrer M, Fernández RM, Antiñolo G. Hirschsprung's disease as a mod el of complex genetic etiology. Histol Histopathol. 2013;28(9):1117-1136. doi: 10.14670/HH-28.1117
11. Sarsu SB, Karakuş SC, Erdem AU. Colon perforation caused by a foreign body in Hirschsprung disease. J Pediatr Surg. 2012;47(10):e15-7. doi: 10.1016/j.jpedsurg.2012.05.032
12. Swenson O. Hirschsprung's disease: a review. Pediatrics. 2002;109(5):914-918. doi: 10.1542/peds.109.5.914
13. Gubergrits N.B. Khronicheskaya abdominal'naya bol'. Moscow; 2010. (In Russ.)
14. Chepurnoĭ GI, Kivva AN. Sravnitel'naia otsenka razlichnykh sposobov operativnoĭ korrektsii bolezni Girshprunga [Comparative evaluation of various methods of surgical correction in Hirschsprung's disease]. Vestn Khir Im I I Grek. 2001;160(4):62-65. (In Russ.) PMID: 11837168
Supplementary files
Review
For citations:
Marinchuk A.T., Pak E.S., Petrova T.M., Kharkov A.S., Bukhtin O.V. Hirschsprung’s disease: current state of the problem, clinical observation. South Russian Journal of Therapeutic Practice. 2025;6(2):101-105. (In Russ.) https://doi.org/10.21886/2712-8156-2025-6-2-101-105