Learn About Hirschsprung Disease

What is the definition of Hirschsprung Disease?

Hirschsprung disease is an intestinal disorder characterized by the absence of nerves in parts of the intestine. This condition occurs when the nerves in the intestine (enteric nerves) do not form properly during development before birth (embryonic development). This condition is usually identified in the first two months of life, although less severe cases may be diagnosed later in childhood.

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What are the causes of Hirschsprung Disease?

Isolated Hirschsprung disease can result from mutations in one of several genes, including the RET, EDNRB, and EDN3 genes. However, the genetics of this condition appear complex and are not completely understood. While a mutation in a single gene sometimes causes the condition, mutations in multiple genes may be required in some cases. The genetic cause of the condition is unknown in approximately half of affected individuals.

How prevalent is Hirschsprung Disease?

Hirschsprung disease occurs in approximately 1 in 5,000 newborns.

Is Hirschsprung Disease an inherited disorder?

Approximately 20 percent of cases of Hirschsprung disease occur in multiple members of the same family. The remainder of cases occur in people with no history of the disorder in their families.

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What are the latest Hirschsprung Disease Clinical Trials?
Translation and Validation of the Hirschsprung and Anorectal Malformation Quality of Life (HAQL) Questionnaire in a Danish Hirschsprung Population

Summary: The Hirschsprung and anorectal malformation quality of life (HAQL) questionnaire is a disease-specific quality of life questionnaire with 5 different elements (3 questionnaires for patients (categories: age 8-11, 12-16, and >17 years) and two questionnaires for parents of patients (categories: patients aged 8-11 and 12-16 years). In the first part of this study, the questionnaires will be translat...

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The Association Between Calretinin and the Function of Ganglion Cells in Long Segment and Total Hirschsprung Disease

Summary: This study aims to compare the outcomes of patients with long segment Hirschsprung disease or total colonic aganglionosis who had negative calretinin staining and positive ganglion cells on the proximal resection margins to those who had both positive findings.

Who are the sources who wrote this article ?

Published Date: May 01, 2018Published By: National Institutes of Health

What are the Latest Advances for Hirschsprung Disease?
Analysis of the Effect of Laparoscopic and Open Surgical Treatment in Children with Congenital Megacolon.
The utilization of botulinum toxin for Hirschsprung disease.
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Transition and reversal: long-term experience of the MACE procedure in children.