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Year 2020 Vol. 28 No 1

REVIEWS

D.A. MOROZOV, E.S. PIMENOVA, T.D. MARCHUK

HIRSCHSPRUNG’S DISEASE IN CHILDREN WITH DOWN SYNDROME. FEATURES OF CLINICAL ASPECTS, DIAGNOSTICS AND TREATMENT

I.M. Sechenov First Moscow State Medical University, Moscow,
The Russian Federation

The purpose of this review was to combine information about children with aganglionosis and Down syndrome and about the possible causes of high complication rates in this group of patients. Down syndrome is the most common chromosomal abnormality associated with Hirschsprung’s disease (2-10%). The mortality rate in this group of patients is higher. The cause, in addition to combined congenital heart defects, is a specific complication for aganglionic patients – Hirschsprung-associated enterocolitis. The incidence of enterocolitis before and after surgical treatment is statistically significantly higher in children with Down syndrome (29-48%). This may be due to specific disorders in the leukocytes, interferon protection of the intestinal mucosa, as well as blockade of serotonin production and vasoactive intestinal peptide involved in the protection of the enteral nervous system. The frequency of other poor functional results after pull-through surgery (constipation/incontinence) in children with Down syndrome does not statistically different from other patients. Awareness of a physician and parents about the possible risk of developing severe enterocolitis in a child with aganglionosis and Down syndrome can help to choose the treatment and postoperative observation of such patients and to prevent serious complication.

Keywords: congenital malformations, Hirschsprung disease, Down syndrome, hirschsprung-associated enterocolitis, children
p. 84-91 of the original issue
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Address for correspondence:
119991, Russian Federation,
Moscow, Trubetskaya Str., 8-2,
I.M. Sechenov First Moscow
State Medical University,
Department of Pediatric Surgery
And Urology-Andrology,
Tel. +7-985-265-33-02,
e-mail: evgeniyapimenova@list.ru,
Evgeniya S. Pimenova
Information about the authors:
Morozov Dmitry A., MD, Professor, Head of the Department of Pediatric Surgery and Urology-Andrology, I.M. Sechenov First Moscow State Medical University, Moscow, Russian Federation.
https://orcid.org/0000-0002-1940-1395
Pimenova Evgeniya S., PhD, Associate Professor of the Department of Pediatric Surgery and Urology-Andrology, I.M. Sechenov First Moscow State Medical University, Moscow, Russian Federation.
https://orcid.org/0000-0001-7206-5987
Marchuk Tatyana D., 4-Year Student of the Pediatric Faculty, I.M. Sechenov First Moscow State Medical University, Moscow, Russian Federation.
https://orcid.org/0000-0002-0608-479X
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