Shwachman-Diamond syndrome (SDS) is an inherited condition. It can affect the bone marrow, pancreas, skeletal system, and other organ systems. Children with this disease have a shortage of neutrophils, a type of white blood cell that protects the body from bacterial infections, (a condition called neutropenia) which makes them more prone to pneumonia, ear infections, and skin infections. SDS can also lead to decreased numbers of red blood cells, called anemia, or decreased numbers of platelets, called thrombocytopenia. Children with SDS are also at increased risk for leukemia.
Nearly 90 percent of people diagnosed with SDS have a mutation in the SBDS gene (Shwachman-Bodian-Diamond syndrome).
The new North American Shwachman-Diamond Syndrome Registry is based here at Fred Hutchinson Cancer Research Center. Patients may contact the registry directly to receive the enrollment packets and questionnaires. For more information or to join the registry, contact the Shwachman-Diamond Syndrome Registry Coordinator, Melissa Alvendia, at (206) 667-6965 or (866) 792-5876 or firstname.lastname@example.org
Children with SDS don’t get enough nutrition from their food and are slow to grow and gain weight. This is a condition known as failure to thrive. Other symptoms include low bone density and difficulty breathing due to the poor development of the rib cage, which may form too narrowly. Many children with this disease are short in stature and speech delays and slow development of motor skills are also common.
A common manifestation of SDS is neutropenia, a low neutrophil count, which makes children with this disease more susceptible to infections.
Anemia and blood clotting problems due to low numbers of platelets are also common. Up to 30 percent of children with SDS will develop leukemia or aplastic anemia.
Immunologic problems may be seen in SDS patients. Skeletal problems may include problems with bone development or low bone density. SDS patients may also have abnormalities with their endocrine systems and some may experience insulin-dependent diabetes, growth hormone deficiency, and hypothyroidism. Cardiomyopathies have been seen in some cases as have a variety of other organ system problems.
Diagnosing SDS involves a physical exam, lab tests, and a review of the patient’s clinical history. The height, weight, growth patterns, and any anomalies the child may have been born with are also evaluated and a family history is taken.
Tests to rule out other diseases, such as cystic fibrosis and Pearson syndrome may be performed.
A bone marrow exam may also be required. Tests for pancreatic enzyme levels are useful to diagnosis SDS and a pancreatic ultrasound may be useful in screening for SDS.
Genetic testing is helpful for diagnosis, however, mutations in the SDS gene may be absent in some patients with SDS.