Shwachman syndrome, also known as Shwachman-Diamond syndrome (SDS), is a rare inherited disorder that usually affects the bone marrow, pancreas, and skeletal system.
The main function of bone marrow is to produce blood cells for the body. These include red blood cells (which bring oxygen to tissues), white blood cells (which help fight infection), and platelets (which help in blood clotting). In patients with SDS, there is a dysfunction in the bone marrow, which may lead to bone marrow failure.
The pancreas is the organ responsible for making digestive enzymes that help to break down food into nutrients that can be absorbed. In patients with SDS, the pancreas loses the ability to make these enzymes.
More than 50% of patients with SDS are of short stature that is unrelated to nutritional problems. Bone abnormalities, also called metaphyseal chondrodysplasia, are seen mainly in the femur and tibia (leg bones) and the ribs.
An infant with SDS will first present with diarrhea and foul-smelling, oily stools. This is due to the inability to absorb fat. By 4-6 months of age, feeding and growth problems become apparent. Once enzyme replacement is given, fat is able to be absorbed and diarrhea becomes less problematic. Other digestive problems include the inability to absorb fat-soluble vitamins, which include vitamins A, D, E, and K. Any patient with SDS may have recurrent infections because of a decrease in white blood cells, particularly the neutrophils (also known as neutropenia). These white blood cells are an important part of the immune system, which helps the body fight off disease and infection. Patients may also experience low levels of red blood cells (called anemia), low levels of platelets (called thrombocytopenia), and bone abnormalities (including short stature).
Researchers are not sure how common Shwachman-Diamond syndrome is; medical researchers estimate that it affects one in every 50,000 births. The disease affects slightly more males than females.
There is limited information on the survival rates of patients with SDS, but on average, patients live to be about 35 years old. The leading causes of death in patients with SDS are infection, leukemia, and bone marrow failure.
There is no cure or specific treatment for Shwachman syndrome. Instead, treatment focuses on reducing symptoms and treating complications.
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