Rare Nephrology News
Disease Profile
Short bowel syndrome
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-9 / 100 000
Age of onset
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ICD-10
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Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Summary
Short bowel
Treatment
The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.
Management Guidelines
- Patient information booklet: Nutrition Guidelines for Patients with Short Bowel Syndrome. Memorial Sloan-Kettering
Cancer Center. 1998. New York, NY. Revised 2010 (PDF)
FDA-Approved Treatments
The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.
- Teduglutide [rDNA origin](Brand name: Gattex) Manufactured by NPS Pharmaceuticals, Inc.
FDA-approved indication: Treatment of adult patients with short bowelsyndrome (SBS) who are dependent on parenteral support
National Library of Medicine Drug Information Portal - Glutamine(Brand name: NutreStore™) Manufactured by Emmaus Medical Inc.
FDA-approved indication: Treatment of short bowel syndrome in patients receiving specialized nutritional support when used in conjunction with a rercombinant human growthhormone that is approved for this indication.
National Library of Medicine Drug Information Portal - Follitropin alfa, recombinant(Brand name: Zorbtive) Manufactured by Emmaus Medical, Inc.
FDA-approved indication: Treatment of short bowel syndrome in patients receiving specialized nutritional support.
National Library of Medicine Drug Information Portal
Organizations
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Organizations Supporting this Disease
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Gastroparesis and Dysmotilities Association (GPDA)
5520 Dalhart Hill NW
Calgary, AB
T3A 1S9
Canada
Telephone: 403-247-3215
E-mail: jkf@gpda.net
Website: https://www.digestivedistress.com
Organizations Providing General Support
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American Gastroenterological Association
4930 Del Ray Avenue
Bethesda, MD 20814
Telephone: 301–654–2055
Fax: 301–654–5920
E-mail: communication@gastro.org
Website: https://www.gastro.org/patient -
Association of Gastrointestinal Motility Disorders (AGMD)
140 Pleasant Street
Lexington, MA 02421
Telephone: +1-781-275-1300
E-mail: info@agmdhope.org
Website: https://www.agmdhope.org/ -
International Foundation for Functional Gastrointestinal Disorders (IFFGD)
3015 Dunes West Blvd. Suite 512
Mount Pleasant, SC 29466
Telephone: +1-414-964-1799
Website: https://iffgd.org/
Learn more
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
Where to Start
- MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
- The Merck Manuals Online Medical Library provides information on this condition for patients and caregivers.
- The National Digestive Diseases Information Clearinghouse (NIDDK) offers information on this condition. Click on the link to view information on this topic.
- The University of Washington's Children's Hospital and Regional Medical Center Web site has a resource page for parents on short bowel syndrome. Click on the link above to access this page.
- The Children's Hospital Boston Web site as a resource page on short bowel syndrome for parents and families. Click on the link above to access the page.
In-Depth Information
- MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Short bowel syndrome. Click on the link to view a sample search on this topic.
Selected Full-Text Journal Articles
- Spencer AU et al., Pediatric short bowel syndrome: Redefining predictors of success. Ann Surg. 2005 Sept;242(3):403-412.
- McMellen ME, Wakeman D, Longshore SW, McDuffie LA, Warner BW. Growth factors: possible roles for clinical management of the short bowel syndrome. Semin Pediatr Surg. 2010 Feb;19(1):35-43.
- Le HD, Fallon EM, de Meijer VE, Malkan AD, Puder M, Gura KM. Innovative parenteral and enteral nutrition therapy for intestinal failure. Semin Pediatr Surg. 2010 Feb;19(1):27-34.
- Markel TA, Crisostomo PR, Lahm T, Novotny NM, Rescorla FJ, Tector J, Meldrum DR. Stem cells as a potential future treatment of pediatric intestinal disorders. J Pediatr Surg. 2008 Nov;43(11):1953-63.
- Cole CR, Hansen NI, Higgins RD, Ziegler TR, Stoll BJ; Eunice Kennedy Shriver NICHD Neonatal Research Network. Very low birth weight preterm infants with surgical short bowel syndrome: incidence, morbidity and mortality, and growth outcomes at 18 to 22 months. Pediatrics. 2008 Sep;122(3):e573-82.
- Hasosah M, Lemberg DA, Skarsgard E, Schreiber R. Congenital short bowel syndrome: a case report and review of the literature. Can J Gastroenterol. 2008 Jan;22(1):71-4. Review.
- Nightingale J, Woodward JM; Small Bowel and Nutrition Committee of the British Society of Gastroenterology. Guidelines for management of patients with a short bowel. Gut. 2006 Aug;55 Suppl 4:iv1-12.
- Gupte GL, Beath SV, Kelly DA, Millar AJ, Booth IW. Current issues in the management of intestinal failure. Arch Dis Child. 2006 Mar;91(3):259-64.
- AGA Technical Review on Short Bowel Syndrome and Intestinal Transplantation. Gastroenterology. 2003;124:1111-1134 . (PDF)
References
- Short Bowel Syndrome. National Digestive Diseases Information Clearinghouse. July, 2015; https://digestive.niddk.nih.gov/ddiseases/pubs/shortbowel/index.htm.
- Cagir B. Short-Bowel Syndrome. Medscape Reference. December 22, 2016; https://emedicine.medscape.com/article/193391-overview#a8.