Request PDF on ResearchGate | On May 1, , G. Amar and others published Intérêt de la calrétinine dans le diagnostic de la maladie de Hirschsprung. Hirschsprung's disease (HD or HSCR) is a birth defect in which nerves are missing from parts of the intestine. The most prominent symptom is ‎: ‎Short-segment, long-segment. Download Citation on ResearchGate | Hirschsprung's disease[LA MALADIE DE HIRSCHSPRUNG] | Hirschsprung's disease consists of functional bowel.


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A colostomy is performed first. The other part of the maladie hirschsprung is done later in the child's first year of life. Outlook Prognosis Symptoms improve or go away maladie hirschsprung most children after surgery. A small number of children may have constipation or problems controlling stools fecal incontinence.

HONselect - Hirschsprung Disease

Children who get treated early or who have a shorter segment of bowel involved have a better outcome. Possible Complications Complications maladie hirschsprung include: Diagnosis[ edit ] A: Contrast enema showing a CETZ at rectosigmoid, arrow.


Contrast enema showing a CETZ at midsigmoid, arrow. Contrast enema showing a CETZ at descending colon, arrow.

Hirschsprung disease: MedlinePlus Medical Encyclopedia

Definitive diagnosis is made by suction biopsy of the distally narrowed segment. Diagnostic techniques involve anorectal manometry[22] barium enemaand rectal biopsy. The suction rectal biopsy is considered the current international gold standard in the diagnosis of Hirschsprung's disease.

Treatment[ edit ] Treatment of Hirschsprung's maladie hirschsprung consists of surgical removal resection of maladie hirschsprung abnormal section of the colon, followed by reanastomosis.

Colostomy[ edit ] The first stage of treatment used to be a reversible colostomy.

Orphanet: Search a disease

In this approach, the healthy end maladie hirschsprung the large intestine is cut and attached to an opening created on the front of the abdomen. The contents of the bowel are discharged through the hole in the abdomen and into a bag.

Am J Hum Genet ; A gene for Hirschsprung maladie hirschsprung megacolon in the pericentromeric region of human chromosome maladie hirschsprung Nature Genet ; 4: A gene for Hirschsprung disease maps to the proximal long arm of chromosome Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease.

Hum Mol Genet ; 4: Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease. Frequency of RET maladie hirschsprung in long- and short-segment Hirschsprung disease.

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