Find information on thousands of medical conditions and prescription drugs.

Hirschsprung's disease

Hirschsprung's disease, or aganglionic megacolon, involves an enlargement of the colon, caused by bowel obstruction resulting from an aganglionic section of bowel (the normal enteric nerves are absent) that starts at the anus and progresses upwards. The length of bowel that is affected varies but seldom stretches for more than a foot or so. more...

Home
Diseases
A
B
C
D
E
F
G
H
Hairy cell leukemia
Hallermann Streiff syndrome
Hallux valgus
Hantavirosis
Hantavirus pulmonary...
HARD syndrome
Harlequin type ichthyosis
Harpaxophobia
Hartnup disease
Hashimoto's thyroiditis
Hearing impairment
Hearing loss
Heart block
Heavy metal poisoning
Heliophobia
HELLP syndrome
Helminthiasis
Hemangioendothelioma
Hemangioma
Hemangiopericytoma
Hemifacial microsomia
Hemiplegia
Hemoglobinopathy
Hemoglobinuria
Hemolytic-uremic syndrome
Hemophilia A
Hemophobia
Hemorrhagic fever
Hemothorax
Hepatic encephalopathy
Hepatitis
Hepatitis A
Hepatitis B
Hepatitis C
Hepatitis D
Hepatoblastoma
Hepatocellular carcinoma
Hepatorenal syndrome
Hereditary amyloidosis
Hereditary angioedema
Hereditary ataxia
Hereditary ceroid...
Hereditary coproporphyria
Hereditary elliptocytosis
Hereditary fructose...
Hereditary hemochromatosis
Hereditary hemorrhagic...
Hereditary...
Hereditary spastic...
Hereditary spherocytosis
Hermansky-Pudlak syndrome
Hermaphroditism
Herpangina
Herpes zoster
Herpes zoster oticus
Herpetophobia
Heterophobia
Hiccups
Hidradenitis suppurativa
HIDS
Hip dysplasia
Hirschsprung's disease
Histoplasmosis
Hodgkin lymphoma
Hodgkin's disease
Hodophobia
Holocarboxylase...
Holoprosencephaly
Homocystinuria
Horner's syndrome
Horseshoe kidney
Howell-Evans syndrome
Human parvovirus B19...
Hunter syndrome
Huntington's disease
Hurler syndrome
Hutchinson Gilford...
Hutchinson-Gilford syndrome
Hydatidiform mole
Hydatidosis
Hydranencephaly
Hydrocephalus
Hydronephrosis
Hydrophobia
Hydrops fetalis
Hymenolepiasis
Hyperaldosteronism
Hyperammonemia
Hyperandrogenism
Hyperbilirubinemia
Hypercalcemia
Hypercholesterolemia
Hyperchylomicronemia
Hypereosinophilic syndrome
Hyperhidrosis
Hyperimmunoglobinemia D...
Hyperkalemia
Hyperkalemic periodic...
Hyperlipoproteinemia
Hyperlipoproteinemia type I
Hyperlipoproteinemia type II
Hyperlipoproteinemia type...
Hyperlipoproteinemia type IV
Hyperlipoproteinemia type V
Hyperlysinemia
Hyperparathyroidism
Hyperprolactinemia
Hyperreflexia
Hypertension
Hypertensive retinopathy
Hyperthermia
Hyperthyroidism
Hypertrophic cardiomyopathy
Hypoaldosteronism
Hypocalcemia
Hypochondrogenesis
Hypochondroplasia
Hypoglycemia
Hypogonadism
Hypokalemia
Hypokalemic periodic...
Hypoparathyroidism
Hypophosphatasia
Hypopituitarism
Hypoplastic left heart...
Hypoprothrombinemia
Hypothalamic dysfunction
Hypothermia
Hypothyroidism
Hypoxia
I
J
K
L
M
N
O
P
Q
R
S
T
U
V
W
X
Y
Z
Medicines

This disease is named for Harald Hirschsprung, the Danish physician who first described the disease in 1886, describing two infants who had died with swollen bellies. "The autopsies showed identical pictures with a pronounced dilatation and hypertrophy of the colon as the dominant features" (Madsen 17).

Hirschsprung’s disease is a congenital disorder of the colon in which certain nerve cells, known as ganglion cells, are absent, causing chronic constipation (Worman and Ganiats 487). The lack of ganglion cells, proven by Orvar Swenson to be the cause of the disease, disables the muscular peristalsis needed to move stool through the colon, thus creating a blockage. One in five thousand children suffer from Hirschsprung’s. Four times as many males get this disease than females. Hirschsprung’s develops in the fetus during the early stages of pregnancy. Typical symptoms for infants include not having their first bowel movement (meconium) within 48 hours of birth, and repeated vomiting. Some infants may have a swollen abdomen. Two thirds of the cases of Hirschsprung’s are diagnosed within three months of the birth. Occasionally symptoms do not appear until early adulthood. A barium enema is the mainstay of diagnosis of Hirschsprung’s.

The usual treatment is "pull-through" surgery where the portion of the colon that does have nerve cells is pulled through and sewn over the part that lacks nerve cells (National Digestive Diseases Information Clearinghouse). For a long time, Hirschsprung’s was considered a multi-factorial disorder, where a combination of nature and nurture were considered to be the cause (Madsen 19). However, in August of 1993, two articles by independent groups in Nature Genetics said that Hirschsprung’s disease could be mapped to a stretch of chromosome 10 (Angrist 351). This research also suggested that a single gene was responsible for the disorder. However, the researchers were unable to isolate the single gene that they thought caused Hirschsprung’s.

Genetic basis

In 2002, scientists thought they found the solution. According to this new research, the interaction of two variant genes caused Hirschsprung’s. RET was isolated as the gene on chromosome 10, and it was determined that it could have dominant mutations that cause loss of function (Passarge 11). An important gene that RET has to interact with in order for Hirschsprung’s to develop is EDNRB, which is on chromosome 13. Six other genes were discovered to be associated with Hirschsprung’s. According to the study, these genes are GDNF on chromosome 5, EDN3 on chromosome 20, SOX10 on chromosome 22, ECE1 on chromosome 1, NTN on chromosome 19, and SIP1 on chromosome 2. These scientists concluded that the mode of inheritance for Hirschsprung’s is oligogenic inheritance (Passarge 11). This means that two mutated genes interact to cause a disorder. Variations in RET and EDNRB have to coexist in order for a child to get Hirschsprung’s. However, although six other genes were shown to have an effect on Hirschsprung’s, the researchers were unable to determine how they interacted with RET and EDNRB. Thus, the specifics of the origins of the disease are still not completely known.

Read more at Wikipedia.org


[List your site here Free!]


Hirschsprung's disease
From Gale Encyclopedia of Medicine, 4/6/01 by Caroline A. Helwick

Definition

Hirschsprung's disease, also known as congenital megacolon, is an abnormality in which certain nerve fibers are absent in segments of the bowel, resulting in severe bowel obstruction.

Description

Hirschsprung's disease is caused when cells in the wall of the colon (parasympathetic ganglion cells) do not develop before birth. The affected segment of the intestine lacks the ability to relax and move bowel contents along. As a result of this area of constriction, the bowel proximal (or above the stricture) dilates, producing megacolon (dilation of the colon). The disease affects varying lengths of bowel segment, most often involving the region around the rectum. In 10% of children, the entire colon and part of the small intestine are involved.

The disease occurs once in every 5,000 births, and it is about four times more common in males than females.

Causes & symptoms

Hirschsprung's disease develops in the fetus early in pregnancy when, for unknown reasons, nerve cells fail to develop in a segment of bowel. The absence of these nerve fibers, which help control the movement of bowel contents, results in intestinal obstruction and other symptoms. There may be a genetic basis to Hirschsprung's disease, since 4-50% of siblings are also afflicted and about 10% of children with the disease have a genetic condition, such as Down's syndrome.

The initial symptom is usually severe, continuous constipation. A newborn may fail to pass meconium (the first stool) within 24 hours of birth, may repeatedly vomit yellow or green colored bile, and may have a distended (swollen, uncomfortable) abdomen. Occasionally, infants may have only mild or intermittent constipation, often with diarrhea.

While two thirds of cases are diagnosed in the first three months of life, Hirschsprung's disease may also be diagnosed later in infancy or childhood. Occasionally, even adults are diagnosed with a variation of the disease. In older infants, symptoms and signs may include anorexia (lack of appetite or inability to eat), lack of the urge to move the bowels, empty rectum on physical examination, distended abdomen, and a mass in the colon that can be felt by the physician during examination. It should be suspected in older children with abnormal bowel habits, especially a history of constipation dating back to infancy and ribbon-like stools.

Occasionally, the presenting symptom may be a severe intestinal infection called enterocolitis, which is life threatening. The symptoms are usually explosive, watery stools and fever in a very ill-appearing infant. There is a great need to diagnose the condition before the intestinal obstruction causes an overgrowth of bacteria that evolves into a medical emergency. Enterocolitis can lead to severe diarrhea and massive fluid loss, which can cause death from dehydration unless surgery is done immediately to relieve the obstruction.

Diagnosis

Hirschsprung's disease in the newborn must be distinguished from other causes of intestinal obstruction. The diagnosis is suspected by the child's medical history and physical examination, especially the rectal exam. The diagnosis is confirmed by a barium enema x ray, which yields a picture of the bowel. The x ray will indicate if a segment of bowel is constricted, causing dilation and obstruction. A biopsy of rectal tissue will reveal the absence of the nerve fibers. Adults may also undergo manometry, a balloon study of internal anal sphincter pressure and relaxation.

Treatment

Hirschsprung's disease must be treated surgically. The goal is to remove the diseased, nonfunctioning segment of the bowel and restore bowel function. This is often done in two stages. The first stage relieves the intestinal obstruction by performing a colostomy. This is the creation of an opening in the abdomen (stoma) through which bowel contents can be discharged into a waste bag. When the child's weight, age, or condition is deemed appropriate, surgeons close the stoma, remove the diseased portion of bowel, and perform a "pull-through" procedure, which repairs the colon by connecting functional bowel to the anus. This usually establishes fairly normal bowel function.

Prognosis

Overall, prognosis is very good. Most infants with Hirschsprung's disease achieve good bowel control after surgery, but a small percentage of children may have lingering problems with soilage or constipation. These infants are also at higher risk for an overgrowth of bacteria in the intestines, including subsequent episodes of enterocolitis, and should be closely followed by a physician.

Prevention

Hirschsprung's disease is a congenital abnormality that has no known means of prevention. It is important to diagnose the condition early in order to prevent the development of enterocolitis.

Key Terms

Anus
The opening into the rectum, through which feces pass.
Barium enema x ray
A procedure that involves the administration of barium into the intestines by a tube inserted into the rectum. Barium is a chalky substance that enhances the visualization of the gastrointestinal tract on x ray.
Colostomy
The creation of an artificial opening into the colon through the skin for the purpose of removing bodily waste. Colostomies are usually required because key portions of the intestine have been removed.
Enterocolitis
Severe inflammation of the intestines that affects the intestinal lining, muscle, nerves, and blood vessels.
Manometry
A balloon study of internal anal sphincter pressure and relaxation.
Meconium
The first waste products to be discharged from the body in a newborn infant, usually greenish in color and consisting of mucus, bile, and so forth.
Megacolon
Dilation of the colon.
Parasympathetic ganglion cell
Type of nerve cell that is normally found in the wall of the colon.

Further Reading

For Your Information

    Books

  • Phillips, Sidney F., and John H. Pemberton. "Megacolon: Congenital and Acquired." In Sleisenger & Fordtran's Gastrointestinal and Liver Disease, edited by Mark Feldman, et al. Philadelphia: W.B. Saunders Co., 1998.

    Periodicals

  • Fortuna, Randall S., et al. "Critical Analysis of the Operative Treatment of Hirschsprung's Disease." Archives of Surgery 131 (May 1996): 520.
  • Swenson, Orvar. "Early History of the Therapy of Hirschsprung's Disease: Facts and Personal Observations Over 50 Years." Pediatric Surgery 31 (1997): 1003.

    Organizations

  • American Pseudo-Obstruction & Hirschsprung's Society. 158 Pleasant St., North Andover, MA 01845. (978)685-4477.

Gale Encyclopedia of Medicine. Gale Research, 1999.

Return to Hirschsprung's disease
Home Contact Resources Exchange Links ebay