Genetic diseases

Hirschsprung's disease

Hirschsprung's disease

Hirschsprung Hirschsprung's disease - a rare congenital disease that develops as a result of congenital impaired nerve plexus that provide innervation of the colon.In men, this pathology is found four times more likely, according to the frequency of occurrence of various research institutes ranges from 1 - 10 cases per 10,000 population.The diagnosis of Hirschsprung's disease in 90% of cases set even babies, with 20% of babies simultaneously present other congenital diseases of the nervous system, genitourinary disorders, diseases of the digestive and cardio - vascular diseases.Ten times more likely the disease observed in children with Down syndrome

Hirschsprung's disease in children - Causes

The basis of the disease is a violation of the innervation of the lower large intestine, leading to a significant reduction (sometimes complete absence) motility aganglionarnogo segment.As a consequence, in the above box intestine begins to accumulate intestinal contents that older child

ren manifested chronic constipation.

Normally, in the muscular and submucosal layers of the entire length of the colon defined intramural ganglia (nerve plexus), responsible for the ability to promote intestinal contents (peristaltic activity).If Hirschsprung's disease on different parts of the distribution and extent of the colon there is a lack (aganglioz) or a significant reduction in the number of (gipoganglioz) nerve plexus.In the absence of motor activity specific part of the intestine, in the overlying parts of the contents congestion occurs, which entails chronic intestinal obstruction and persistent toxicity.After a certain period of time above the area in the intestinal wall aganglioza degenerative changes occur, which entails inability to evacuate feces and development of so-called megacolon.

neinnervirovannogo length of part of the intestine is varied and may include the entire large intestine, and grab a few centimeters.That length of the section of the colon without nerve plexus and determines the severity of the disease.

Classification of Hirschsprung's disease anatomical forms:

• Rectal.Nadampulyarnaya ampullar affected and part of the rectum and perineal rectum

• Segmental.It affects one segment of the rectosigmoid transition, or sigmoid, or there is a defeat and two segments of the normal area between

• Rektosigmoidalnaya.It affects all sigmoid colon or distal third

• Subtotal.Usually affects the left side of the colon, but sometimes the process of destruction extends to the right half of

Classification of Hirschsprung's disease in clinical stages:

• compensated.In most cases observed in rectal aganglioze

• Decompensated.Observed in total and rektosigmoidalnoy subtonalnoy forms aganglioza

• subcompensated.It is a transitional form between compensated and decompensated stage and is usually observed in total and rektosigmoidalnoy subtonalnoy forms aganglioza

Hirschsprung's disease - symptoms and for

Newborns are three variants of the clinical course of the disease.The most favorable is the first option, in which complications do not develop as a result of short aganglioza area.The clinical picture of this embodiment is represented by two main symptoms - bloating, and alternating constipation.In the case of adequate conservative therapy, which is a regular installation cleansing enemas, the state of these children can be quite compensated sufficiently long period of time.

second variant is characterized by unstable clinical picture.Already almost from the first days of life the baby have symptoms of severe intoxication.After some time, the disease is complicated by enterocolitis.These children already at the early stages of diarrheal syndrome occurs, which is accompanied by a decrease in bloating and leads to the exclusion of surgical pathology.

third variant of the disease is the most severe.This is due to the fact that almost simultaneously appears symptoms of Hirschsprung's disease and enterocolitis.In the clinical picture of the first roles overlook the symptoms of an infectious disease (dyspnea, tachycardia, hyperthermia, pallor and lethargy) appear obvious or hidden diarrheal syndrome.This heavy variant of the disease usually occurs in children with long aganglioza area.

main symptoms of Hirschsprung's disease in adults is flatulence and poorly amenable to drug treatment resistant constipation.Because of the long stagnation of feces in the gut, it takes a gradual stretching, pain in the abdomen, complaints of nausea, visually noticeable change in the shape of the abdomen, the person loses weight quickly.In some cases, long-lasting diarrhea and constipation alternate, which are combined with a sharp deterioration in the general condition of the patient.This occurs as a consequence develop an inflammatory destruction of the intestinal wall of the colon

Hirschsprung's disease - diagnosis

Irrigoscopy is perhaps the most common and simple method of diagnosis of Hirschsprung's disease.Upon receipt of the pictures is good enough to view both the extended portions of the colon and place them below the narrowing.The only drawback of this diagnostic method is that to obtain accurate diagnostic picture should be pronounced problems phenomenon megacolon.

musculoskeletal symptoms in the survey radiographs are contoured expanded colon, swelling of the intestinal loops in the lower abdomen is not pneumatization intestine.In case of simultaneous diagnosed with Hirschsprung's disease enterocolitis, intestinal loops in extended on the radiograph observed fluid levels (typical intestinal obstruction)

Hirschsprung's disease - treatment

only effective way that allows you to get rid of the disease, is operational.Treatment of Hirschsprung's disease by surgery is radical removal of the affected area of ​​the colon, followed by the compound of her health card and the terminal portion of the rectum.Surgical treatment can be edinomomentnym and dvuhmomentnym.

Edinomomentnoe surgery involves performing all the steps in one operation, but sometimes indications selected dvuhmomentnuyu operation.At the first stage the operation is carried out dvuhmomentnoy resection (removal) of the affected part of the colon, with breeding her healthy tip (colostomy) through a special incision in the abdomen.Cal is displayed in a special container attached to the patient's belt.Once the patient has adapted to new conditions in the shortened digestive intestine, a second stage of surgery, which is reconstructive surgery, during which the rectum connects the end of the healthy bowel and colostomy in the abdomen is sutured.

After a surgical treatment is usually observed a gradual normalization of stool, some patients in the initial stages of recovery there may be a slight diarrhea.In some cases, patients have a tendency to constipation, which usually resolved by receiving laxatives.If constipation or diarrhea for the regulation of normal bowel activity conducted after surgery for Hirschsprung's disease is recommended that a diet rich in plant fiber.

after surgery significantly increases the risk of infection of the intestine with the subsequent development of enterocolitis, so if observed in the postoperative period following symptoms: symptoms of gastrointestinal bleeding, bloating, vomiting, diarrhea, fever - should immediately seek medical attention.

In the case of short-haul portion of the defeat at Hirschsprung's disease, the surgical treatment can be dispensed with, limiting siphon enemas that have to do throughout life.

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