What is Shwachman-Diamond Syndrome (SDS)?
Shwachman-Diamond Syndrome is a bone marrow failure disorder that is associated with low white blood cells (neutropenia), poor food absorption (malabsorption) and problems with bones. Most children with SDS are diagnosed in infancy.
What are the signs and symptoms of SDS?
- Short stature
- Poor weight gain (“Failure to thrive”)
- Problems with bones (“metaphyseal dysostosis”, a specific finding seen on x-rays).
- Frequent infections
How is SDS diagnosed?
- Blood tests are performed to document low white cells. Other cells of the blood may also be affected including red cells and/or platelets.
- Poor food absorption is caused by ‘pancreatic insufficiency’ (reduced digestive enzyme production by the pancreas). This can be measured by various laboratory tests looking at the blood and stool. X-ray tests looking at the pancreas itself may be performed.
- X-ray tests may demonstrate problems with the bones
- Genetic testing of a gene called SBDS (Shwachman Bodian Diamond Syndrome) may reveal specific mutations
How is SDS treated?
Treatment for children with SDS includes:
- pancreatic enzyme supplementation, vitamin supplementation and nutrition monitoring
- prevention and/or treatment of infections
- correction of low blood counts when possible
- prevention of orthopedic deformities
- close monitoring for the development of progressive bone marrow failure or cancers
- bone marrow transplant (may be required in severe cases)
About treatment for Shwachman-Diamond Syndrome at Children’s
Children’s Cancer and Blood Disorders program achieves outcomes that rank among the top national programs and cares for more than two-thirds of Minnesota children and adolescents with blood disorders. In the program, families coping with anemia have access to the newest and most promising treatments and receive care spearheaded and coordinated by a board-certified hematologist/oncologist.
If you are a family member looking for a Children’s hematologist or oncologist or wanting to schedule an appointment, call the outpatient clinic at Children’s – Minneapolis at 612-813-5940.
If you are a health professional looking for consultation or referral information, please call Children’s Physician Access at 1-866-755-2121 (toll-free).