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Hercsebrenj disease

Publié par happy-diet vendredi 9 avril 2010

Hercsebrenj 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 obstruction and functional.
Despite the fact that the disease has been described by Roche Ruysch years 1691 and put out his knowledge through Hercsebrenj in 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 Kirnohan Kernohan absence of cell nodal aganglionosis part the maximum of the small intestine cause in their patients, and in 1949, described Swenson Swenson procedure first firm hard disease Hercsebrenj eradication of colon junction and rectum rectosigmoidectomy and reached the colon anal coloanal anastomosis, and since that time have been described other operations include technical Duhamel will Duhamel and Soave techniques, and recent progress surgical procedure and surgery after being diagnosed early, and in ways less interference, has led to a reduction of illness and mortality among patients with disease Hercsebrenj.


And most cases of disease Hercsebrenj is currently diagnosed in the period after birth, and must be placed Hercsebrenj disease into account in any baby 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-ray after dye enema contrast enema performed to diagnose the disease but that the examination of the complete sample of tissue thickness rectal rectal biopsy is the standard for diagnosis.


When the diagnosis is suspected to be the primary treatment is to eradicate the non-performers from the intestine to function due to lack of nodal cells, and the work reached the part of the rectum with a bowel of the nervous supply intact.


It is noteworthy that there are cases where the affected part is several centimeters of the colon and a few of these cases discovered 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, as 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
Chart shows the part of the affected bowel disease Hercsebrenj chart shows the normal gut

A birth defect is the lack of cell nodal Congenital aganglionosis part the maximum of the small intestine explains the disease Hercsebrenj and the absence of cell nodal starts anus, which is coverage always then extends in the direction the minimum proximally for a distance vary from case to case, and both 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 bowel function and reduce the movement worms have, and still the exact mechanism behind the development of disease Hercsebrenj unknown.


And cells Nodal intestinal derived during ontogeny from a part called the summit neural neural crest and during the normal development of nerve cells-phase primary neuroblasts exist small intestine in the seventh week of pregnancy and reach the colon in the twelfth week, and one of the interpretations of the causes of the disease is often the disruption in the migration of neurons phase primary on track down to the maximum of the small intestine, and the alternative would be that the natural migration could have occurred with the failure of neurons phase primary to live, or spread proliferate, or characterized differentiate part-Aqsa from the intestine that does not exist by the cells of nodal and also the distribution of abnormal part affected from the intestine of the components necessary for the growth of the nervous like Alvepronktin fibronectin, and Allaemien laminin, and molecule adhesion neurons neural cell adhesion molecule - NCAM, and the factors feeding the fabric of the nervous neurotrophic factors may be responsible.


In addition, note that the cells of smooth part of the colon - the cell-free Streptococcus - is an inert electrically 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 Kajl spatial interstitial cells of Cajal, and FAO cells electrically pacemaker cells and the nerves that reach infectious smooth muscle has been developed within the essay as a significant shareholder.


And there are three strands of neurons extended to the gut plexus under the membrane lining of the intestines (Meissner Meissner) and the plexus between the muscle intermuscular (Iierpach Auerbach) and plexus membrane small smaller mucosal plexus and all of these braids are integrated accurately and to participate in all aspects and functions of intestinal absorption and secretion , and the Movement, and the entry into force of blood.
Supply components on the nervous system and the natural balance that occurs to a 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 is sufficient when the loss of supply nervous outer extrinsic innervation, and these nodes controlled on both the contraction, and energizes the cells, smooth and external control is mainly through the nerve fibers Analog Smbthawayp which operates substance acetylcholine cholinergic fibers and nerve fibers, which is operated 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 from 2-3 times more nervous supply natural.
Examination of the colon tissue of a patient Hercsebrenj
With the loss of the inhibitory nerves infectious muscle tension was not opposed and lead to an imbalance in the contraction of smooth muscle and lack of consensus in the movement of the intestines of worms and the occurrence of a functional obstruction.
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 level of the world: the rates are not known specifically, but studies suggest the incidence of the disease among newborns up to a rate of between per case per 1500 to 7000.


Defects and deaths from disease Hercsebrenj
About 20% of children born with the defects they have created the accompanying 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 shortcomings:

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Down syndrome Down syndrome.
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Andenberg Shah syndrome Waardenburg-Shah syndrome.
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Imnet syndrome 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 that do not address the mortality rate to around 80% and the proportion of deaths due to any of the very few surgical interventions after treatment Vtkon The mortality rate is about 30% due to inflammation enterocolitis enterocolitis
And post-surgical complications include a separation of place of sutures resulting in the leak of intestinal contents of 5%, and a bottleneck area delivery 5-10%, and intestinal obstruction 5% and 5% of pelvic abscess and microbial contamination of the wound by 10%.


And include long-term complications intestinal obstruction and fecal incontinence fecal incontinence and chronic constipation and inflammation of the colon.


And death in arrears are due to complications of the patients that the disease affects them on the section of a long intestinal tract, 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 that their performance is relatively good, but for patients who have a syndrome or disease associated other long distance from the intestine, the predictability of their fate will be bad.


Sex-related disease Hercsebrenj
The disease affects males more than females and the ratio is about one in every four females from males.


Symptoms Hercsebrenj

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About 10% of patients have a history 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 distension, and poor nutrition, and growth failure.
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The detection of the disease using ultrasound prenatal Prenatal ultrasound rarely except in cases where the disease involves the entire colon.
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Older children Hercsebrenj patients suffering from chronic constipation since birth and could be gaining weight with them is weak.
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Does not suffer-infected children Hercsebrenj of encopresis fecal retention despite the existence 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 lead to poisoning of microbial sepsis.
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In a study of 254 cases, the percentage of those who complain of symptoms and signs of intestinal obstruction, 57%, 30% complain of constipation and 11% complained of symptoms and signs of inflammation of the intestinal colitis, and 2% complained of symptoms and signs of bowel puncture.

Signs of illness Hercsebrenj

Medical examination of births leading to diagnosis, but it is possible to detect the presence of abdominal bulge, and anal contraction, and could also test to differentiate between the disease and Hercsebrenj similar situations, such as abdominal bloating or gas pool because of the absence of anal hole.


Etiology Hercsebrenj
The absence of nodal cells moral blemish maximum part of the small intestine.


Medical examinations
Laboratory tests:
Conducted laboratory tests before doing surgery to the patient and the most important image of Complete blood counts 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 rectal air.
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The work of two of the first ray after work to dye enema barium, and a second picture after 24 hours have been found, the maximum segment narrowing of the colon barium dye, and capture more than 24 hours a expander part actually higher stenoses.
Image again after 24 hours have been found, narrowing the maximum part of the colon barium dye, and capture more than 24 hours a expander section actually higher stenosis

Examined a sample of tissue:

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Diagnosis is confirmed Hercsebrenj by examining a sample of the fabric of the colon, which showed the absence of nodal cells, absence of ganglion cells and is full of fish sampled for testing full-thickness rectal biopsy and the sample is taken and the patient under the influence of general anesthetic.
Examined 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 the sample and a tool to transfer the image through a screen to be room examination.
Complete sample fish emphasizes diagnostic
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And recently used simple suction biopsy of the rectum simple suction rectal biopsy tissue for a check.
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Histological examination shows the absence of a nerve plexus of smooth muscle myenteric plexus (Iierpach Auerbach), plexus, and under the membrane lining the submucosal plexus (Meissner Meissner) also shows increased supply of nerve fibers external to the nervous supply of natural fibers.

Treat Hercsebrenj

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Be the goal of treatment is to avoid complications, and provide temporary measures until surgery, and preservation of bowel function after surgery.
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Given solutions to maintain the balance of fluids and salts, and placed a tube designed to prevent further swelling of the intestinal tract, are also given intravenous antibiotics.
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Due to the possible presence of congenital heart disease Hercsebrenj companion may be necessary to assess the condition of the heart, and do 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, may be the work of A Report of the colon surgeon temporarily when the diagnosis is suspected, and that connect the colon top of the zone affected by opening the abdominal wall diverting colostomy, and when the child grows and weighing up to 10 KG is the work necessary and the specific surgery to repair the defect.
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With the progress of anaesthesiology and the presence of anesthesia more safely, and progress in the means to control the vital functions during surgery may be the work of the surgery in a single step without resorting to the colorectal surgeon A Report on a temporary, but, in some cases accompanied by complications such as a bowel puncture.
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There are several ways to perform the surgery, which rely on all the roads to cut off and eradicate 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 surgery of children, 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 before surgery.
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Food by the high content of fiber, which includes fresh fruit and vegetables can help bowel movement - and that after the restoration of bowel movement - in the follow-up period after surgery in some patients.

Activity of the patient
You must specify the activity of older children 6 weeks to allow Baltiam wound.


Follow-up

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A Report on the work after the colon of the newborn child must remain in hospital to be given adequate nutrition and safe to perform Altfemim his job.
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After working to eradicate the part of the injured and the delivery of the intestine, must remain the patient's hospital to provide solutions intravenous and do not give anything by mouth until the out patient Wind pass flatus, and ensure the restoration of the intestine's function, and can then provide fluids by mouth, and increase food 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 continued growth, and bowel function.

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 pelvic abscess, or microbial contamination of the wound, or surgical eradication was incomplete and which may require re-operation.
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Gastric inflammation colorectal be symptoms are diarrhea, and abdominal distension, and high temperature, vomiting and lethargy, and loss of activity is happening at a rate of 10-30% of patients Hercsebrenj, and arise as a result of inflammation of the mucous membrane lining of the intestines, and as inflammation the patient is at risk of bowel puncture, and needs treatment given intravenous antibiotics.
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Intestinal obstruction after surgery is to be symptoms of abdominal bloating, and constipation, and vomiting, may occur because of the complete removal of the part of the intestine, which does not have a nodal cells.

Assess the status of patients

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More than 90% of patients get better after the surgery, even though they are going through disturbances in the function of the intestine for several years before the improvement.
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About 1% of patients in need Hercsebrenj A Report on the work of a permanent colon.
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Hercsebrenj patients who suffer from congenital heart defect results will be bad for them.

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