Hirschsprung’s disease in the practice of a pediatrician
https://doi.org/10.31146/1682-8658-ecg-197-1-145-151
Abstract
Relevance: Hirschsprung’s disease (HD) is a congenital disease characterized by the absence of ganglion cells in the submucosal nerve plexus of Meissner, as well as the muscular-intestinal nerve plexus of Auerbach. This disease is one of the variants of neurocrystopathies and leads to disorders of intestinal peristalsis, which most often manifest themselves in the form of colon obstruction. About 80% of cases are caused by genetic mutations that are autosomal dominant with incomplete penetrance. The first symptoms of the disease usually appear immediately after birth, with a difficult discharge of meconium, in the future the disease is masked under chronic constipation, with which such patients most often come to see pediatricians. Aim: to present a clinical case of Hirschsprung’s disease, under the guise of chronic constipation Material and methods: The medical history of a boy aged 3 years 9 months with Hirschsprung’s disease, rectosigmoid form, subcompensation stage is presented.
About the Authors
S. N. Borzakova
Pirogov Russian National Research Medical University; Research Institute for Healthcare Organization and Medical Management of Moscow Healthcare Department
Russian Federation
Russian Federation
L. A. Kharitonova
Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
V. S. Koval
Research Institute for Healthcare Organization and Medical Management of Moscow Healthcare Department
Russian Federation
Russian Federation
I. D. Konova
Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
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Review
For citations:
Borzakova S.N., Kharitonova L.A., Koval V.S., Konova I.D. Hirschsprung’s disease in the practice of a pediatrician. Experimental and Clinical Gastroenterology. 2022;(1):145-151. (In Russ.) https://doi.org/10.31146/1682-8658-ecg-197-1-145-151
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