Shwachman-Diamond Syndrome - My Child Has - Children's Hospital Boston

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Shwachman-Diamond Syndrome

Shwachman-Diamond Syndrome

Programs that treat this condition

Bone Marrow Failure

White Blood Cell (WBC) Disorders

What is Shwachman-Diamond Syndrome?

Shwachman-Diamond Syndrome (SDS) is a relatively rare genetic disorder. Affected individuals have poor food absorption (malabsorption) and low white blood cell counts (neutropenia). Neutropenia places individuals with SDS at risk for severe, sometimes life threatening infections. Some individuals with SDS may develop complications such as leukemia or bone marrow failure.

Who is affected by Shwachman-Diamond Syndrome?

SDS occurs equally in males and females. It has been reported in all ethnic groups.

What causes Shwachman-Diamond Syndrome?

SDS is a genetic disease. It is an autosomal recessive disorder, meaning that a person needs to inherit two mutated genes (one from each parent) in order to have the disease. "Carriers" of the genetic defect (for example, the parents) do not have the disease.

What are the symptoms of Shwachman-Diamond Syndrome?

Diarrhea is almost always present in infancy. Stools are foul smelling and greasy in appearance. This occurs because the pancreas of an individual with SDS lacks digestive enzymes necessary for breaking foods down into absorbable nutrients. Generally, feeding and growth problems become evident by the age of four to six months.

An individual with SDS may also have problems with infections. This is because their bone marrow is not making enough white blood cells called neutrophils which help destroy bacteria. This condition of low neutrophils (neutropenia), can occur all of the time, some of the time, or follow a cycle.

Anemia (low red blood cells), although not common, may also be present. Anemia can cause pale skin, decreased energy/sleepiness, difficulty with breathing, and problems with feeding.

Thrombocytopenia (low platelets) has been reported in up to 30% of people with SDS. Thrombocytopenia can cause bleeding, bruising, or petechiae (small red or purple dots on the skin due to bleeding).

About 50-75% of people with SDS have skeletal abnormalities. These may include growth plate changes, short ribs, curvature of the spine, bent fingers, or cleft palate.

Delayed tooth development may occur. Dental abscesses, cavities, and gum problems are more common due to decreased amounts of tooth enamel and problems with fighting infections.

How is Shwachman-Diamond Syndrome diagnosed?

In addition to a complete history and physical examination, other diagnostic tests are used to aid in the diagnosis of Shwachman-Diamond Syndrome. Blood work is performed to evaluate the white blood cells, red blood cells, and platelets under the microscope. Blood testing also evaluates the function of the kidney, liver, and pancreas. Studies such as pancreatic stimulation testing and stool collection may also be performed. A Skeletal survey evaluates the bones of the body. In addition, samples of bone marrow (Bone Marrow Aspirate and Biopsy) are taken to examine all of the blood cell lines (red cells, white cells, and platelets), genetic make up of the bone marrow, and the physical architecture of the bone marrow.

Researchers have recently discovered the gene that causes Shwachman-Diamond Syndrome. At the present time, genetic testing is only available in the research laboratory and at a private genetic testing facility.

What is the treatment for Shwachman-Diamond Syndrome?

Specific treatment for SDS and its complications will be determined by your childs physician based on:

Your child's age, overall health, and medical history
Extent of the disease
Your child's tolerance for specific medications, procedures, or therapies
Expectations for the course of the disease
Your opinion or preference

Treatment options may include, but are not limited to, the following:

Pancreatic Enzyme Replacement. Enzymes are responsible for breaking down food into smaller, more absorbable nutrients. They are available in powder form (used mostly by infants) or capsules. Enzymes are taken with snacks and meals. Side effects of pancreatic enzyme replacement include, but are not limited to: irritation around the mouth and anus, allergic reactions, nausea, cramping, constipation, diarrhea, and a fibrous condition in the colon (associated with very high doses).
Neutropenic Guidelines. When a person with neutropenia has fever, specific recommendations are made regarding when that individual needs to be evaluated and treated with intravenous antibiotics. Since the risk for life threatening infection differs with each person, these guidelines are discussed on an individual basis.
Growth Factors. These are indictable (using a needle) medicines which stimulate the bone marrow to make more white blood cells. Most patients respond to this therapy, however, there are individuals who have gone on to develop bone marrow failure or leukemia. The risks and benefits of growth factor therapy are highly individualized.
Orthopedic Surgery. This treatment depends on the specific skeletal problem.
Blood Product Replacement. Blood and/or platelet transfusions may be given to raise the red blood cells or platelet counts of individuals at risk for severe anemia or bleeding. Side effects include, but are not limited to: fever, headache, hives, allergic reaction, and infection.

What is the latest research on Shwachman-Diamond Syndrome?

The Hospital for Sick Children, Toronto Canada
Researchers reported the discovery of the gene for Shwachman-Diamond Syndrome in December 2002. In the short term this information will lead to improved diagnosis of the disease as genetic testing becomes more available. The focus of the research has now shifted to learning more about this specific gene, its role in cells and tissues, and how it works.

Children's Hospital and Dana Farber Cancer Institute
Researchers are actively collecting samples of blood and bone marrow (voluntary) from patients with SDS and other bone marrow failure syndromes in order to better understand genetic material, molecular aspects of the diseases, and clinical outcomes of patients.


					Children's Hospital Boston is the primary pediatric teaching hospital of Harvard Medical School

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