Hirschsprung's Disease

Hirschsprung's Disease

National Organization for Rare Disorders, Inc.

Important

It is possible that the main title of the report Hirschsprung's Disease is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

  • congenital megacolon
  • megacolon, aganglionic
  • colonic aganglionosis
  • HSCR
  • intestinal aganglionosis

Disorder Subdivisions

  • None

General Discussion

Hirschsprung's disease (HSCR) is characterized by the absence of particular nerve cells (ganglions) in a segment of the bowel. The absence of ganglion cells causes the muscles to lose their ability to move the stool through the intestine (peristalsis). Constipation occurs and obstruction of the colon becomes more obvious and perhaps painful. HSCR can occur as an isolated problem or as part of disorder that affects multiple organ systems.

Symptoms

Symptoms of HSCR in the newborn period include failure to pass the meconium within a short time after birth, failure to pass a first stool for 24-48 hours, watery diarrhea and vomiting of green bile. Within a few days there may be signs of constipation, watery diarrhea and possible bacterial toxin production, abdominal swelling (distension), poor weight gain and slow growth.



Initial diagnosis of HSCR is frequently made later in childhood or in adulthood. These individuals often report a lifelong history of constipation.

Causes

HSCR that occurs as an isolated problem has been associated with mutations in at least six different genes. Approximately 50% of affected individuals have one of these gene abnormalities. Inheritance can be dominant or recessive depending on the gene involved, but it is probably necessary for multiple abnormal genes to be present for the disorder to occur. The abnormal genes involved in HSCR can have different effects in members of the same family.



The genes associated with HSCR are in two major groups called RET genes and EDNRB genes. When HRSC involves a short segment of the colon, the major gene involved is the RET gene located on chromosome 10q11.2.



When HSCR occurs along with other abnormalities, the cause is frequently a chromosome abnormality or genetic syndrome.

Affected Populations

Hirschsprung's Disease affects males more often then females. It occurs in approximately one in five thousand live births. It is usually apparent at birth but may also develop in older children and adults. Hirschsprung's Disease should be considered in people with a history of severe constipation.

Standard Therapies

Diagnosis

Most cases (85-90%) of HSCR are diagnosed in early infancy. The first symptom is usually failure to pass the first bowel movement (meconium). The preferred diagnostic test for HSCR is a suction biopsy of the rectum. Absence of ganglion cells confirms the diagnosis.



Molecular genetic testing for the RET gene is available, but testing for the other genes associated with HSCR is available on a research basis only.



When other abnormalities are present in addition to HSCR, it is possible that the HSCR is due to a chromosomal abnormality or genetic syndrome. Individuals with multiple anomalies should be evaluated by a clinical geneticist in order to attempt to establish an underlying diagnosis.



Treatment

In almost all cases, treatment of HSCR requires surgery to remove the part of the colon and/or rectum that lacks the normal nerve development, and to join the two healthy ends together. There are three standard surgical procedures designed to correct this disorder. The choice of procedure is a function of the training and experience of the surgeon. Each procedure removes the affected part and attaches the healthy part of the bowel to the rectum completing what is known as a "pull-through" procedure.



If the child is very, very young (perhaps less than 6 months) or if he/she is critically ill the surgeon may advise the parents to permit a temporary colostomy in which the diseased part of the colon is removed and the healthy end brought to the surface of the abdomen (stoma). Through this 'stoma' the contents of the colon and rectum are voided into a special bag and removed. After a time, the "pull through" operation is carried out and the abdominal wall opening is closed.



Genetic counseling may be of benefit for patients and their families.

Investigational Therapies

Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.



For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:



Tollfree: (800) 411-1222

TTY: (866) 411-1010

Email: prpl@cc.nih.gov



For information about clinical trials sponsored by private sources, contact:

www.centerwatch.com

References

TEXTBOOKS

Peña A, Hong AR. Hirschsprung Disease. In: NORD Guide to Rare Disorders. Lippincott Williams & Wilkins. Philadelphia, PA. 2003:.



Beers MH, Berkow R., eds. The Merck Manual, 17th ed. Whitehouse Station, NJ: Merck Research Laboratories; 1999:2215-16.



Berkow R., ed. The Merck Manual-Home Edition.2nd ed. Whitehouse Station, NJ: Merck Research Laboratories; 2003:1231.



Yamada T, Alpers DH, Owyang C, et al. Eds. Textbook of Gastroenterology. 2nd ed. J. B. Lippincott Company. Philadephia, PA; 1995:1743-44.



Behrman RE, Kliegman RM, Arvin AM. Eds. Nelson Textbook of Pediatrics. 15th ed. W.B. Saunder Company. Philadelphia, PA; 1996:1070-72.



REVIEW ARTICLES

Teitelbaum DH, Coran AG. Primary pull-through for Hirschsprung's disease. Semin Neonatol. 2003;8:233-41.



Puri P. Intestinal neuronal dysplasia. Semin Pediatr Surg. 2003;12:259-64.



Hajivassiliou CA. Intestinal obstruction in neonatal/pediatric surgery. Semin Pediatr Surg. 2003. 12;241-53.



Stewart DR, von Allmen D. The genetics of Hirschsprung's disease. Gastroenterol Clin North Am. 2003;32:819-37.



Mowat DR, Wilson MJ, Goossens M. Mowat-Wilson syndrome. J Med Genet. 2003;40:305-10.



Teitelbaum DH, Coran AGReoperative surgery for Hirschsprung's disease. Semin Pediatr Surg. 2003;12:124-31.



JOURNAL ARTICLES

Minford JL, Ram A, Turnock RR, et al. Comparison of functional outcomes of Duhamel and transanal endorectal coloanal anastomosis for Hirschsprung's disease. J Pediatr Surg. 2004;39:161-65.



Elhalaby EA, Hashish A, Elbarbary MM, et al. Transanal one-stage endorectal pull-through for hirschsprung's disease: a multicenter study. J Pediatr Surg. 2004;39:345-51.



Puri P, Shinkai T. Pathogenesis of Hirschsprung's disease and its variants: recent progress. Semin Pediatr Surg. 2004;13:18-24.



Hadidi A. Transanal endorectal pull-through for hirschsprung's disease: A comparison with the open technique. Eur J Pediatr Surg. 2003;13:176-80.



Hadidi A. Transanal endorectal pull-through for Hirschsprung's disease: experience with 68 patients.

J Pediatr Surg. 2003;38:1337-40.



Tomita R, Ikeda T, Fujisaki S, et al. Upper gut motility of Hirschsprung's disease and its allied disorders in adults. Hepatogastroenterology. 2003;50:1959-62.



Shah AA, Shah AV. Staged laparoscopic-assisted pull-through for Hirschsprung's disease. J Peiatr Surg. 2003;38:1167-69.



Langer JC, Durrant AC, de la Torre L, et al. One-stage transanal Soave pull-through for Hirschsprung's disease: a multicenter experience with 141 children. Ann Surg. 2003;238:569-83; discussion 583-85.



Griseri P, Pesce B, Patrone G, et al. A rare haplotype of the RET proto-oncogene is a risk-modifying allele in hirschsprung's disease. Am J Hum Genet. 2002;71:969-74.



FROM THE INTERNET

McKusick VA, Ed. Online Mendelian Inheritance in Man(OMIM). The Johns Hopkins University. Hirschsprung Disease. Entry Number; 142623: Last Edit Date; 2/11/2004.



McKusick VA, Ed. Online Mendelian Inheritance in Man (OMIM). The Johns Hopkins University. Hirschsprung Disease 2; HSCR2. Entry Number; 142623: Last Edit Date; 8/27/2001.



What I need to know about Hirschsprung's Disease. National Digestive Disease Information Clearinghouse (NDDIC). December 2001. 13pp.

http://digestive.niddk.nih.gov/ddiseases/pubs/hirschsprungs_ez/



Parisi M, Kapur RP. Hirschsprung Disease Overview. GENEReviews. 12 July 2002. 24 pp.

www.geneclinics.org/servlet/access?id=8888891



Hirschsprung's disease. Institute of Child Health. Great Ormond Street Hospital for Children, NHS Trust. ©GOSH/ICH trust 2002. 4pp.

www.ich.ucl.ac.uk/factsheets/diseases_conditions/hirschsprungs_disease/



Hirschsprung's Disease. pull-thru network. nd. 2pp.

www.pullthrough.org/Hirschsprungs.html



Surgery for Children with Hirschsprung's Disease. A Guide for Patients & Parents. Your Health Matters. UCSF Medical Center. nd. 3pp.



Muir AJ. Hirschsprung's disease. VeriMed Healthcare Network. Review date: 1/12/2003. 3pp.

http://health.allrefer.com/health/hirschsprungs-disease-info.html



Vance A. Hirschsprung's disease. Health A to Z. (Gale Encyclopedia of Medicine). December 2002. 5pp.

www.healthatoz.com/healthatoz/Atoz/ency/hirschsprungs-disease.html



Hirschsprung's Disease (Megacolon). HealthLink. ©Medical College of Wisconsin. 1p.

www.healthlink.mcw.edu/article/930605447.html



Hirschsprung's Disease. eCureMe. ©2003. 5pp.

www.ecureme.com/emyhealth/Pediatrics/Hirschsprung's_Disease.asp



Hirschsprung's Disease. Cincinnati Children's Hospital Medical Center. Reviewed: 7/03. 3pp.

www.cincinnatichildrens.org/health/info/abdomen/diagnose/hirschsprung.htm



Hirschsprung's Disease. Digestive and Liver Disorders. Lucile Packard Children's Hospital at Stanford. nd. 4pp.

www.lpch.org/DiseaseHealthInfo/HealthLibrary/digest/hirschpr.html

Resources

NIH/National Institute of Diabetes, Digestive & Kidney Diseases

Office of Communications & Public Liaison

Bldg 31, Rm 9A06

31 Center Drive, MSC 2560

Bethesda, MD 20892-2560

Tel: (301)496-3583

Email: NDDIC@info.niddk.nih.gov

Internet: http://www2.niddk.nih.gov/



International Foundation for Functional Gastrointestinal Disorders

700 W. Virginia St., 201

Milwaukee, WI 53217

USA

Tel: (414)964-1799

Fax: (414)964-7176

Tel: (888)964-2001

Email: iffgd@iffgd.org

Internet: http://www.iffgd.org



Pull-Thru Network

1705 Wintergreen Parkway

Normal, IL 61761

USA

Tel: (309)262-2930

Email: PullthruNetwork@gmail.com

Internet: http://www.PullthruNetwork.org



Bowel Group for Kids Inc.

PO Box 40

Oakdale, NSW, 2570

Austrailia

Tel: 02 4659 6067

Fax: 61 2 4659 6381

Email: enquiries@bgk.org.au

Internet: http://www.bgk.org.au



Genetic and Rare Diseases (GARD) Information Center

PO Box 8126

Gaithersburg, MD 20898-8126

Tel: (301)251-4925

Fax: (301)251-4911

Tel: (888)205-2311

TDD: (888)205-3223

Internet: http://rarediseases.info.nih.gov/GARD/



Madisons Foundation

PO Box 241956

Los Angeles, CA 90024

Tel: (310)264-0826

Fax: (310)264-4766

Email: getinfo@madisonsfoundation.org

Internet: http://www.madisonsfoundation.org



CORE

3 St. Andrews Place

London, NW1 4LB

United Kingdom

Tel: 02074860341

Fax: 02072242012

Email: info@corecharity.org.uk

Internet: http://www.corecharity.org.uk



Medical Home Portal

Dept. of Pediatrics

University of Utah

P.O. Box 581289

Salt Lake City, UT 84158

Tel: (801)587-9978

Fax: (801)581-3899

Email: mindy.tueller@utah.edu

Internet: http://www.medicalhomeportal.org



For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc.® (NORD). Cigna members can access the complete report by logging into myCigna.com. For non-Cigna members, a copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html.

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