Hirschsprung's disease

Posted by e-Medical PPT
Hirschsprung's disease, or congenital aganglionic megacolon, involves an aganglionic section of bowel that starts at the anus and progresses proximally. The length of bowel that is affected varies but seldom stretches for more than about 30 cm. It arises when ganglion cells in the gut fail to develop and mature correctly. The result is a section of bowel that is essentially paralyzed.According to this new research, Hirschsprung's is caused by the interaction between two proteins encoded by two variant genes. The RET proto-oncogene on chromosome 10 was identified as one of the genes involved. The protein with which RET has to interact in order for Hirschsprung’s disease to develop is termed EDNRB and is encoded by the gene EDNRB located on chromosome 13.
With an incidence of 1/5000 births, the most cited feature is absence of ganglion cells: notably in males, 75% have none in the recto-sigmoid, and 8% with none in the entire colon. The enlarged section of the bowel is found proximally, while the narrowed, aganglionic section is found distally; the absence of ganglion cells results in a persistent over-stimulation of nerves within the affected region, resulting in contraction.
1) Delayed passage of meconium.
2) Abdominal distension.
3) Constipation.

Definitive diagnosis is made by suction biopsy of the distally narrowed segment.Diagnostic techniques involve anorectal manometry,barium enema, and rectal biopsy.
Treatment of Hirschsprung's disease consists of surgical removal (resection) of the abnormal section of the colon, followed by reanastomosis. There used to be two steps typically used to achieve this goal.
The first stage used to be a colostomy.
Later, when the child’s weight, age, and condition is right, a pull-through procedure is performed.

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