Shwachman-Diamond syndrome (SDS) is a rare, inherited bone
marrow failure, characterized by a low number of white blood cells, poor growth
due to difficulty absorbing food and, in some cases,
skeletal abnormalities. The condition is named for Boston Children's Hospital
doctors Harry Shwachman, MD, and Louis Diamond, MD (who
later established Dana-Farber/Boston Children's Cancer and Blood Disorders
Center), who were among the researchers to first describe it in 1964. Most
infants with SDS are born with the condition, with symptoms usually appearing
by four to six months of age.
Children with Shwachman-Diamond
treated at Dana-Farber/Boston Children's through our Bone Marrow Failure Program, recognized as one of the nation’s best pediatric treatment
and research programs for bone marrow failure and related conditions. Our
patients have access to advanced treatments and diagnosis, including DNA mutation identification and ongoing clinical trials investigating new treatments.
Shwachman-Diamond syndrome is
caused by mutations in a gene called SBDS.
It takes two copies of the defective gene – one copy from each parent – to
cause the disease. In most cases, the parents show no signs of the syndrome.
Genetic tests can identify the
precise mutation in about 90 percent of children with SDS. It is believed that
an as-yet-unidentified gene is responsible for the remaining 10 percent.
Shwachman-Diamond syndrome can vary greatly from child to
child, but affects several body systems, including the bone marrow, pancreas
and skeleton (and occasionally the liver and teeth). The most common symptoms
of SDS are:
After cystic fibrosis, SDS is the next most common cause of
pancreatic insufficiency, which makes it difficult for patients to digest and
Children with SDS have a higher than normal risk of
developing blood disorders like myelodysplastic
syndrome (MDS) and leukemia.
Doctors diagnose Shwachman-Diamond syndrome with:
After all tests are completed, doctors will be able to
outline the best treatment options.
Patients with Shwachman-Diamond syndrome usually require
care from specialists in hematology, gastroenterology, endocrinology and
orthopedics. Treatment of SDS includes:
In addition to providing information and access to local and national research
initiatives, our clinic offers multidisciplinary care (physician specialists,
dentists, nurse practitioners, social workers) and consultative services for
patients with Shwachman-Diamond syndrome.
Dana-Farber/Boston Children's is a leading member of the Shwachman-Diamond Syndrome Registry, which works with patients to collect blood and bone marrow for research of Shwachman-Diamond syndrome. Collections and registries like this
help researchers and physicians better understand genetic and molecular aspects
of disease and how they relate to patients' clinical outcomes – first steps to
identifying possible new treatments. In addition, Dana-Farber/Boston Children's
physician-scientists are investigating the role of molecules called microRNAs
(which can control how genes are expressed) in SDS.
With modern treatment options and ongoing management, most
children with Shwachman-Diamond syndrome lead normal lives, although continued
medications and regular monitoring through hospital visits are usually
required. These are typically annual visits for children without any major
problems or more frequently for those with complications.
Children with SDS have a small but significant
chance of developing blood disorders such as myelodysplastic syndrome (MDS) or
leukemia. Nearly 5 percent of children with the condition will develop
leukemia, with the risk rising to 25 percent by adulthood.
In addition, recurring
infections, including pneumonia, ear and skin infections, are common. Many
children with SDS also have growth problems and vitamin A, D, E and K