Hirschsprung's disease (HD) is defined as the abse nce of ganglion cells in submucosal (Meissner's) and myenteric (Aurbach's) plexuses in distal bowel extending proximally from internal anal sphincter for variable distances that result in functional obstruc tion caused by dysmotility of the diseased segment.2
Novel RET mutations in
Hirschsprung's disease patients from the diverse South African population.
"There are no charities that I know of for
Hirschsprung's disease and I think that's wrong.
The American
Hirschsprung's Disease Association, Inc.
In one group, gut samples of
Hirschsprung's disease patients were included while in other group, gut samples of other gut malformations excluding
Hirschsprung's disease was included and it was represented as non-Hirschsprung's cases.
Moore, "The contribution of associated congenital anomalies in understanding
Hirschsprung's disease," Pediatric Surgery International, vol.
Chakravarti, "A genetic study of
Hirschsprung disease," American Journal of Human Genetics, vol.
Hyman, "Colonic motility after surgery for
Hirschsprung's disease," The American Journal of Gastroenterology, vol.
Hirschsprung's disease (HSCR) was first described by Harald
Hirschsprung a century ago.[sup][1] The incidence of HSCR is 1/5000 in live born infants.
Rectal biopsy is the gold standard for diagnosing
Hirschsprung's disease, it shows the absence of ganglion cells and presence of hypertrophied nerve fibres.
(5) They observed that their "k values were close to the zero value expected by chance for the diagnoses normal and IND B" and concluded that "with current knowledge, rectal biopsy for diagnostic purposes should only be performed in constipated children for diagnosis of
Hirschsprung's disease." Poor interobserver agreement is not surprising when one considers that only 1 among many sections from each ganglion is counted, boundaries of individual submucosal ganglia and individual ganglion cells are often ill-defined, even anuclear histochemically positive portions of ganglion cell cytoplasm are counted, and the total number of ganglia in a submucosal biopsy may be low, such that differences in interpretation of only 1 or 2 giant ganglia may determine whether the 20% threshold is met.
Genetic background of
Hirschsprung disease: A bridge between basic science and clinical application.
