Hirschsprung disease

Hirschsprung disease (HSCR) is a disease of the large intestine or colon. People with this disease do not have the nerve cells in the intestine required to pass stools from the body normally. Symptoms of Hirschsprung disease usually start in very young children, but may occur later. The symptoms may vary with age, but often involve constipation and/or obstruction of the bowel. Other signs and symptoms include vomiting, abdominal pain or swelling, diarrhea, poor feeding, malnutrition, and slow growth. There are two main types of Hirschsprung disease, known as short-segment disease and long-segment disease, defined by the region of the intestine lacking nerve cells (aganglionic segments).^[1] HSCR is considered a neurocristopathy, a disorder of cells and tissues derived from the neural crest, (a group of embryonic cells of the neural tube that forms several structures, of the body). HSCR may occur as an isolated finding or as part of a another disorder. Isolated HSCR is associated with mutations in several genes. Treatment is with surgery, removing the aganglionic intestinal segment.^[2]  

For a full discussion of this procedure, its risks and benefits, we recommend that you speak with your child's healthcare provider. In the meantime, you may find the following resources to be helpful.

The National Institute of Diabetes & Digestive & Kidney Diseases (NIDDK) has developed an information page on Hirschsprung disease that includes information on the pull-through operation. Click on the link below to view this information page. http://digestive.niddk.nih.gov/ddiseases/pubs/hirschsprungs_ez/index.aspx#7

You can find relevant journal articles on the pull-through procedure through a service called PubMed, a searchable database of medical literature. Information on finding an article and its title, authors, and publishing details is listed here. Some articles are available as a complete document, while information on other studies is available as a summary abstract. To obtain the full article, contact a medical/university library (or your local library for interlibrary loan), or order it online using the following link. Using "Hirschsprungs[ti] pull-through" as your search term should locate articles. To narrow your search, click on the “Limits” tab under the search box and specify your criteria for locating more relevant articles. Click here to view a search. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=PubMed  

The National Library of Medicine (NLM) Web site has a page for locating libraries in your area that can provide direct access to these journals (print or online). The Web page also describes how you can get these articles through interlibrary loan and Loansome Doc (an NLM document-ordering service). You can access this page at the following link http://nnlm.gov/members/. You can also contact the NLM toll-free at 888-346-3656 to locate libraries in your area.

In addition, the following support organizations may be able to provide you with additional information on this topic. They may also be able to help you connect with other families with children with Hirschsprung disease.

Pull-thru Network
2312 Savoy Street
Hoover, AL 35226
Phone: 205–978–2930
E-mail: PTNmail@charter.net  
Web site: http://www.pullthrunetwork.org/  

International Foundation for Functional Gastrointestinal Disorders, Inc. (IFFGD)
P.O. Box 170864
Milwaukee, WI 53217–8076
Toll-free: 888-964-2001
Phone: 414-964-1799
Fax: 414-964-7176
E-mail: iffgd@iffgd.org
Web site: http://www.iffgd.org/