Hirschsprung's disease

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Hirschsprung's disease

[′hərsh‚pru̇ŋz di‚zēz]
(medicine)
A disease caused by absence of the myenteric ganglion cells in a segment of rectum or distal colon, resulting in spasm of the affected part and dilation of the bowel proximal to the defect.
References in periodicals archive ?
Calretinin immunohistochemistry versus acetylcholinesterase histochemistry in the evaluation of suction rectal biopsies for Hirschsprung disease.
Calretinin immunostaining as an adjunct in the diagnosis of Hirschsprung disease.
Correlation of Calretinin Stain With Hirschsprung Disease Status in Our Study and Literature (Inadequate Rectal Suction Biopsies) Hirschsprung No Hirschsprung Disease Disease Calretinin 0 19 (a) No calretinin 5 0 (a) Including 7 cases published by Kapur et al.
Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease.
Frequency of RET mutations in long- and short-segment Hirschsprung disease.
Low frequency of RET mutations in Hirschsprung disease in Sweden.
Analysis of the RET, GDNF, EDN3, and EDNRB genes in patients with intestinal neuronal dysplasia and Hirschsprung disease.
Identity-by-descent and association mapping of a recessive gene for Hirschsprung disease on human chromosome 13Q22.
There are a number of intestinal motility disorders in which defects in innervation and loss or structural alteration of ICCs have been reported, for example, hypertrophic pyloric stenosis, Hirschsprung disease, intestinal pseudo-obstruction, and slow-transit constipation.
Semiquantitative Assessment of the Number of Glucose Transporter-1-Positive Nerve Fibers in 16 Patients With Hirschsprung Disease and 22 Control Patients
Studies of RET and Hirschsprung disease in his laboratory are supported by NICHD HD 28088.