FEATURES OF THE COURSE OF HIRSCHSPRUNG'S DISEASE IN PATIENTS WITH DOWN SYNDROME AND OTHER GENETIC ANOMALIES
Abstract
Introduction. The incidence of Hirschsprung’s disease (HD) in patients with Down syndrome (DS) is significantly higher than in the population and ranges from 2.76 to 16%. The article examines the features of the course of the disease in patients with HD and DS, risk factors for complications and ways to prevent and treat them. Objective. The objective of the presented work was to analyze the prevalence of Hirschsprung’s disease in children with Down syndrome, as well as to identify risk factors for the development of complications, and to develop strategies for the prevention and treatment of this group of patients.Materials and methods. During the period from 2016 to 2024, 14 children (3.8%) with concomitant genetic diseases were operated on at the Filatov Children’s Hospital for Pediatric Surgery: Down syndrome — 10 (2.7%), Moyatt–Wilson — 2 (0.54%), Sturge– Weber — 1 (0.27%) and ondine syndrome — 1 (0.27%). The average age was 1.8 years (from 1 month to 6 years). The total form was diagnosed in 2 cases (14.2%), subtotal — in 2 (14.2%), in other children — recto-sigmoid form (71.6%). Three children (21.4%) had a stoma — ileostomy previously applied to two children with extended agangliosis (14.2%) and a sigmostomy to the 1 child. Results. The majority of children had early (7–50%) or late (3–21.4%) complications: 4 children had a failure of the colorectal anastomosis (CRA). The treatment outcomes were as follows: permanent stoma in 2 (14.2%) children, fecal incontinence in 5 patients (35.7%), rectal stenosis developed in 2 cases (14.2%). One child died on the background of persistent peritonitis with concomitant primary immunodefi ciency syndrome (7.1%). A favorable long-term result was achieved in 6 cases (42.8%). Conclusions. Given the higher risk of developing CRA failure in patients with HD+DS, preventive stomas or 2-stage interventions should be more widely used, which can signifi cantly reduce the risk of infl ammatory complications in the postoperative period.
References
Ravel A., Mircher C., Rebillat A.S., Cieuta-Walti C., Megarbane A. Feeding problems and gastrointestinal diseases in Down syndrome. Arch Pediatr. 2020;27(1):53–60. DOI: 10.1016/j.arcped.2019.11.008.
Saberi R.A., Gilna G.P., Slavin B.V., Huerta C.T., Ramsey W.A., O’Neil Jr C.F. et al. Hirschsprung disease in Down syndrome: An opportunity for improvement J Pediatr Surg 2022;57(6):1040–1044. DOI: 10.1016/j.jpedsurg.2022.01.065.
Halleran D.R., Ahmad H., Maloof E., Paradiso M., Lehmkuhl H., Minneci P.C., Levitt M.A., Wood R.J. Does Hirschsprung-Associated Enterocolitis Differ in Children With and Without Down Syndrome? J Surg Res. 2020;245:564–568. DOI: 10.1016/j.jss.2019.06.086.
Pini Prato A., Arnoldi R., Sgrò A., Felici E., Racca F., Nozza P., Mariani N., Mosconi M., Mazzola C., Mattioli G. Hirschsprung disease and Down syndrome: From the reappraisal of risk factors to the impact of surgery. J Pediatr Surg. 2019;54(9):1838–1842. DOI: 10.1016/j.jpedsurg.2019.01.053.
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. DOI: 10.1007/s00383-013-3361-1.
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. DOI: 10.1016/j.jpedsurg.2009.07.055.
Travassos D., van Herwaarden-Lindeboom M., van der Zee D.C. Hirschsprung’s disease in children with Down syndrome: a comparative study. Eur J Pediatr Surg. 2011;21(4):220–3. DOI: 10.1055/s-0031-1271735.
Hackam D.J., Reblock K., Barksdale E.M., Redlinger R., Lynch J., Gaines B.A. The influence of Down’s syndrome on the management and outcome of children with Hirschsprung’s disease. J Pediatr Surg. 2003;38(6):946–9. DOI: 10.1016/s0022-3468(03)00129-5.
Morabito A., Lall A., Gull S., Mohee A., Bianchi A. The impact of Down’s syndrome on the immediate and long-term outcomes of children with Hirschsprung’s disease. Pediatr Surg Int. 2006;22(2):179–81. DOI: 10.1007/s00383-005-1617-0.
Dingemans AJM., Reck-Burneo C.A., Fuchs M., Sanchez A.V., Lane V.A., Hoover E., Maloof T., Weaver L., Levitt M.A., Wood R.J. Urinary Outcomes in Patients with Down’s Syndrome and Hirschsprung’s Disease. Eur J Pediatr Surg. 2019;29(4):378–383. DOI: 10.1055/s-0038-1660509.
Бельмер С.В., Разумовский А.Ю., Хавкин А.И., Алхасов А.Б., Бехтерева М.К., Волынец Г.В. и др. Болезни кишечника у детей. Том 1. М.: Медпрактика-М; 2018.
