Disease Hercsebrenj Hirschsprung disease
Hercsebrenj disease is a disorder in the development and growth of the nervous system and intestinal cells is characterized by the absence of ganglion cells Nodal maximum part of the colon distal colon, which leads to intestinal blockage and functional. Despite the fact that the disease has been described by Roche Ruysch in 1691 and surfaced About Hercsebrenj year through 1886, but that knowledge Ptulld disease was not very specific except in the mid-twentieth century when he described White's obsession with Whitehouse and Kernohan Kirnohan cells lack nodal aganglionosis maximum part of the small intestine cause in their patients, and in 1949 described the first procedure Swenson Swenson firm hard to eradicate disease Hercsebrenj colitis rectosigmoidectomy junction, rectum and colon reached the anus coloanal anastomosis, and since that time have been described other operations include the technique will Duhamel Duhamel and Soave techniques, and recent progress surgical and surgical procedure after being diagnosed early, and in ways less interference, has led to the reduction of poverty, illness and mortality among patients with disease Hercsebrenj.
And most cases of disease diagnosed Hercsebrenj is currently in the period after birth, and disease must be put into consideration when Hercsebrenj of the newborn can not remove meconium (the dark matter that comes from the baby after birth) meconium within 24-48 hours after birth, and although that the work of X-rays after the enema contrast enema sympathetically lead to diagnose the disease but examine a sample of the full thickness of tissue Palmstakim rectal biopsy is the standard for diagnosis.
On confirmation of the diagnosis is the basic treatment is to eradicate the non-performers from the intestine to function due to lack of nodal cells, and do it reached that part of the rectum with a gut that the supply of neurologically intact.
It is noteworthy that there are cases where the affected part is the number of a few centimeters of the colon and detect these cases at the age of the largest and the most important sign is the presence of chronic constipation in the period from age 6-12 months, and there are cases where the disease include a long section of intestine is occurs when 3-12% of cases the disease may involve the entire colon.
Breed disease Hercsebrenj
The portion of the planning of the affected bowel disease Hercsebrenj chart shows the normal intestine
A birth defect is the absence of nodal cells, the maximum part Congenital aganglionosis of the bowel disease Hercsebrenj and explains the absence of nodal cells begin anus, which is always coverage and extends proximally in the direction of the minimum distance varies from case to case, and both of Aldvertin muscle - and between smooth muscle longitudinal and circular - myenteric (Iierpach Auerbach) and the other - under the lining of the intestines - submucosal (Meissner Meissner) Tkona no longer exist, leading to a reduction in gut function and reduce the movement has worms, and still the exact mechanism behind the development of disease Hercsebrenj unknown.
Nodal and intestinal cells are derived during ontogeny from one part of the so-called neural neural crest the summit and during the normal development of nerve cells, the initial primary neuroblasts are present in small intestinal seventh week of pregnancy and reach the colon in the twelfth week, and one of the explanations for the causes of the disease is an imbalance in the migration of nerve cells in the initial primary path down towards the maximum of the small intestine, and also a substitute for this is that the natural migration could have occurred with the failure of the initial primary neurons to live or spread proliferate, differentiate or characterized by the maximum part of the intestine that does not exist the nodal cells and also the abnormal distribution of the affected part of the small intestine of the components necessary for growth Alvepronktin nervous system, such as fibronectin, and Allaemien laminin, and neuronal adhesion molecule, neural cell adhesion molecule - NCAM, and the factors feeding the nervous tissue neurotrophic factors may be responsible.
In addition, note that the cells of smooth part of the colon - the cell-free Doctrine - be electrically inert during the course of studies of the functions of electrical and refers to a component of muscle myogenic component disease, and finally, the presence of defects in the cells as deadline spatial interstitial cells of Cajal, and FAO cells electrically pacemaker cells and nerves that reach the smooth muscle diseases have been developed within the essay as a significant shareholder.
There are three strands and extended nerve plexus of the intestines under the membrane lining of the intestines (Meissner Meissner) plexus between the muscle and intermuscular (Iierpach Auerbach) plexus and the small membrane smaller mucosal plexus and all of these braids are integrated accurately and involved in all aspects and functions of intestinal absorption, and excretion , and movement, and entry into force of the blood.
Nervous system and supply components that occur the natural balance of bowel movement in the healthy person
And natural movement to be primarily under the control of nerve cells in intestinal intrinsic neurons, and the functions of the intestine with the loss of adequate supply of nervous outer extrinsic innervation, and these nodes controlled on both the contraction and energizes cells and smooth external control is mainly through the nerve fibers Analog Smbthawayp and working substance acetylcholine cholinergic fibers and nerve fibers that work Asambthawayp material adrenaline adrenergic fibers.
And when the infected cells are Hercsebrenj Nodal non-existent, which leads to increase the supply of external nervous, and the increase in nerve fibers that are polychlorinated acetylcholine and adrenaline of 2-3 times more than the supply of natural nervous system.
Examination of the colon tissue of a patient Hercsebrenj
With the loss of the inhibitory nerve diseases was not opposed to muscle tension and lead to an imbalance in the contraction of smooth muscle and the incompatibility of the movement of the intestines and appendix of obstruction and functional.
Part been eradicated from the intestines of people infected with Hercsebrenj
The incidence of disease Hercsebrenj
In the United States: occurs at a rate of 5400-7200 cases per live newborn.
And the world: the rates is not known specifically, but studies suggest the incidence of the disease among newborns up to a rate between cases per 1500 to cases per 7000.
Illness, and deaths from disease Hercsebrenj
About 20% of children born with the defects they have that He is accompanying the nervous system, or heart and blood vessels, or urinary tract, or digestive system. It was found that disease Hercsebrenj be accompanied by one of the following flaws:
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Down syndrome Down syndrome.
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Andenberg Shah syndrome Waardenburg-Shah syndrome.
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AIDS Imnet of blindness and deafness Yemenite deaf-blind syndrome.
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Partial albinism Piebaldism.
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Goldberg syndrome - Cberntzn Goldberg-Shprintzen syndrome.
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Multiple endocrine tumors of type II Multiple endocrine neoplasia type II.
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AIDS breathing congenital central Congenital central hypoventilation syndrome.
And cases not being dealt with by the mortality rate to about 80% and the proportion of deaths due to any of the very few surgical interventions after treatment Vtkon The mortality rate is about 30% because of acute enterocolitis enterocolitis
And post-surgical complications include a split place stitches resulting in leakage of intestinal contents 5%, and suffocation area delivery 5-10% and 5% of intestinal obstruction and pelvic abscess 5% and microbial contamination of the wound 10%.
And include long-term complications ileus fecal incontinence and fecal incontinence and chronic constipation and inflammation of the colon.
And death are due to late complications of patients have disease that affects the long section of the small intestine, and despite the fact that many patients talked to them double or more after surgery, but the follow-up studies on long-term showed that more than 90% of cases improved significantly , and their performance is relatively good, but for patients who have a syndrome associated disease or other long-distance from the intestine, the predictability of their fate will be bad.
Sex-linked disease Hercsebrenj
The disease affects males more than females and the ratio is about one female for every four males.
Symptoms Hercsebrenj
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About 10% of patients have a history of injury benefit a relative.
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Hercsebrenj disease should be placed in the account at any baby can not remove meconium (the dark matter that comes from the baby after birth) meconium within 24-48 hours after birth, or any child suffering from chronic constipation after childbirth and other symptoms include intestinal obstruction, and biliary vomiting bilious vomiting, and abdominal swelling, and poor nutrition, and failure to thrive.
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The detection of disease using ultrasound prenatal Prenatal ultrasound rarely except in cases where the disease involves the entire colon.
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Older children living with Hercsebrenj suffering from chronic constipation since birth and could be gaining weight them weak.
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Do not suffer infected children Hercsebrenj of fecal retention encopresis despite the presence of constipation and abdominal swelling.
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About 10% of the patients to have diarrhea due to inflammation of the colon and increase the growth of microbes, they could be exposing their lives at risk because of a hole colitis leading to poisoning of microbial sepsis.
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In a study of 254 cases, the proportion of people who complain of symptoms and signs of intestinal obstruction 57%, 30% complain of constipation and 11% complain of symptoms and signs of inflammation of the intestinal colitis, and 2% complain of symptoms and signs of bowel puncture.
Signs of disease Hercsebrenj
Medical examination of births does not lead to diagnosis, but it is possible to detect the presence of abdominal bulge, and anal contraction, examination also may help in differentiating between disease Hercsebrenj and similar cases, such as abdominal swelling due to gas gathering or absence of anal hole.
Etiology Hercsebrenj
The absence of nodal cells Kaaib congenital maximum part of the small intestine.
Medical examinations
Laboratory tests:
Conducted laboratory tests before doing surgery to the patient and most important of the full blood picture, and tests for blood clots which in most cases be at normal rates.
Scans:
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X-rays have been found on the abdomen expansion is part of the intestine with the lack of air Palmstakim.
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The work of two photographs of the first ray after work to dye enema barium, and a second 24 hours later may show narrowing of the maximum part of the colon and hold the barium dye more than 24 hours a expander section actually higher stenosis.
Image again after 24 hours have been found to narrow the maximum part of the colon and hold the barium dye more than 24 hours a expander section actually higher stenosis
To examine a sample of tissue:
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Diagnosis is confirmed Hercsebrenj by examining a sample of the fabric of the colon, indicating the absence of nodal cells, absence of ganglion cells and is full of fish sample for testing full-thickness rectal biopsy and the sample is taken and the patient under general anesthesia.
To examine a sample of the fabric of the colon
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The sample is taken using a telescope, which is a flexible tube with a strong light and lenses and a tool to take a sample and a tool to transfer the image across the screen that the examination room.
Complete sample fish confirm the diagnosis
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And recently used simple suction biopsy of the rectum simple suction rectal biopsy for a check-radar.
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Histological examination shows the absence of nerve plexus of smooth muscle myenteric plexus (Iierpach Auerbach), plexus, and under the membrane lining submucosal plexus (Meissner Meissner) also shows increased supply of nerve fibers to the outer nerve fiber supply natural.
Treat Hercsebrenj
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Be the goal of treatment is to prevent complications, and to provide temporary measures until surgery, and preservation of gut function after surgery.
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Given solutions to maintain balance of fluids and salts, and placed a tube designed to prevent further swelling of the intestine, and given intravenous antibiotics.
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Due to the possible presence of congenital heart disease associated Hercsebrenj may be necessary to assess the state of the heart, and the work of genetic tests.
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Begin to assess the condition of the patient and prepared for surgery to confirm the diagnosis by examining a sample of the fabric of the colon, colostomy may be the work of the colon surgeon temporarily when you are sure of the diagnosis, and connect the top of the zone affected colon slot on the wall of the abdomen diverting colostomy, and when the child grows and weighing up to 10 KG is the work of the surgery necessary and specific to redress the balance.
Remove a portion of the intestine and the colon colostomy work
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With the progress of Anesthesiology and the presence of anesthesia more safely, and progress in the means of monitoring the vital functions during surgery may be the work of the surgery in a single step without resorting to the surgeon a temporary colostomy, but in some cases with complications such as a hole in the intestines.
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There are several ways to perform the surgery, which depends on all the roads to cut and the elimination of the infected part and then connect both sides of the intestine before and after the part that has been eradicated.
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Patient needs during treatment for the medical advice from a specialist in pediatric surgery, and a specialist in diseases of the digestive system of children, and a specialist in genetics.
Food patient Hercsebrenj
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The patient must not take anything by mouth prior to surgery.
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Food by the high content of fiber, which includes fresh fruit and vegetables can help bowel movement - and after the restoration of bowel movement - in the follow-up period after surgery in some patients.
Patient Activity
You must specify the activity of older children for 6 weeks to allow Baltiam wound.
Follow-up
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After the work of the colon colostomy for a newborn child must remain in hospital to be given adequate nutrition and safe to perform Altfemim his job.
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After the work of removing the infected part and connecting the intestine, the patient must remain in hospital for intravenous solutions and do not give anything by mouth until the patient's discharge the wind pass flatus, and ensure restoration of bowel function, and can then provide oral fluids, food and increase gradually until the requirements The purpose of nutrition, are also given intravenous antibiotics in hospital to be sure of the performance of bowel function.
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After the departure of the child from the hospital is continuing its growth and functions of the intestine.
Complications
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There could be complications after surgery such as acute enterocolitis enterocolitis, or constipation, or fecal incontinence.
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The bottleneck occurs into surgery, or intestinal blockage, or outlying areas of the pelvis, or microbial contamination of the wound, or surgical eradication was incomplete and which may require re-operation.
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Colorectal gastrointestinal inflammation are symptoms are diarrhea, and abdominal swelling, high temperature, vomiting and lethargy, and loss of activity and it happens at a rate of 10-30% of patients Hercsebrenj, and, arising from inflammation of the mucous membrane lining of the intestines, and as inflammation the patient is at risk of a puncture the intestines, and needs treatment given intravenous antibiotics.
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Ileus after surgery, the symptoms are bloating, and constipation, and vomiting, may occur due to complete removal of the part of the intestine, which had no nodal cells.
Assessment of patients
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More than 90% of patients get better after the surgery, even though they go through disorders in the function of the intestine for several years before the improvement.
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About 1% of patients Hercsebrenj need for the work of a permanent colostomy colon.
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Hercsebrenj patients who suffer from congenital heart defect results will be bad for them.
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