Hirschsprung's disease - one of the most common developmental abnormalities of the large intestine, which is evident lack
innervation of a specific department or the entire colon. Hirschsprung's disease is a genetic etiology. The disease is characterized by absence of ganglion cells in the distal intestine. The disease is hereditary and is caused by a mutation in chromosome 10. With late diagnosis may provoke the development of acute inflammatory processes in the intestine and cause death.
The pathogenesis of Hirschsprung's disease
Ganglion (or ganglion) cells - the common name of several species of large neurons in the gut that are responsible for communication between nerve structures. During ontogeny ganglion cells migrate from the upper intestine to its distal department. Violation of migration leads to the formation aganglionarnogo area ulcer (functional restriction zone) with reduced or no innervation (the ability to make a progressive-contractile movements). In some cases, aganglionarny portion can expand abnormally, forming a megacolon, which is one of the most serious complications of Hirschsprung's disease.
The place of localization aganglionarnogo site is usually the distal colon. In rare cases, there are forms of Hirschsprung's disease in which aganglionarny segment is formed at the site of the splenic pole or developing aganglioz entire colon. In this form of the disease in patients observed a total paralysis of motility.
Hirschsprung's disease in children
Because of its etiology Hirschsprung's disease are diagnosed in the newborn or in the first year of their life. However, there are specific forms of the disease, which is fully developed only in the adult organism. The reasons for the development of Hirschsprung's disease in children in the ontogeny is both hereditary factor, and breach of fetal development. The frequency of diagnosis of Hirschsprung's disease in children is about 1: 5000. The disease is most often diagnosed in boys than in girls (5: 1). With timely diagnosis and treatment, the prognosis is favorable. Most patients fully resumed normal intestinal motility and natural bowel movement. 1% of patients remains a need for a colostomy (derived on the anterior abdominal wall and secured it the open end of the colon) for the elimination of feces and gases.
Hirschsprung's disease: symptoms, diagnostic methods
The main symptoms of Hirschsprung's disease are:
- Nausea, vomiting;
- Abdominal pain;
- Bloating, flatulence.
Agangliozny colon segment plays the role of a functional stenosis, which is formed above the anomalous expansion of the intestine, where the accumulation of faeces. Severity of the symptoms of Hirschsprung's disease is directly proportional to the extent of the affected bowel segment.
In many cases, palpation detected accumulation of feces. The main symptom of Hirschsprung's disease in children is to delay the discharge of meconium in the first 24-48 hours. Some children develop symptoms may only begin during weaning and the transition to solid foods.
In rare cases, Hirschsprung's disease, the symptoms of which are very similar to symptoms of intestinal obstruction when, patients develop enterocolitis (inflammation of the colon and small intestine), provoking diarrhea.
Hirschsprung disease diagnostic methods are x-ray diffraction study of the bowel using a contrast media, as well as colon biopsy. The data obtained by these methods is quite sufficient for the diagnosis and localization and stage of the disease. In rare cases, also used ultrasound and anorectal manometry.
Treatment of Hirschsprung's disease: basic methods
The main methods of treatment of Hirschsprung's disease include:
- Diet therapy;
- Conservative treatment;
- Radical treatment.
Diet therapy and conservative treatment of Hirschsprung's disease - temporary measures in the preparation of the patient to a radical (surgical) treatment. Diet therapy aimed at reducing symptoms in a patient, while the conservative treatment is used to eliminate the symptoms or facilitation.
Radical treatment of Hirschsprung's disease involves surgery in which the excised portion agangliozny bowel anastomosis. Until recently, surgery for Hirschsprung's disease were conducted with the opening of the abdominal cavity and colostomy prior to the resumption of normal intestinal motility. Repeat surgery was performed after a certain time to close the colostomy withdrawn and staple the healthy parts of the bowel.
Modern minimally invasive laparoscopic techniques allow Hirschsprung's disease surgery is performed in a single step, involving excision of the area deprived of innervation and anastomosis through a rectal access. Currently, with Hirschsprung's disease operation with public access are conducted only in the presence of serious complications, such as enterocolitis or megacolon, which are resistive to conservative treatments.