Shwachman-Diamond syndrome
Shwachman-Diamond syndrome (pronounced: shwak-man-diamond syndrome) is a rare genetic disorder characterized by exocrine pancreatic insufficiency, bone marrow dysfunction, skeletal abnormalities, and short stature.
Etymology
The syndrome is named after the two doctors, Dr. Harry Shwachman and Dr. Louis K. Diamond, who first described it in 1964.
Symptoms
The symptoms of Shwachman-Diamond syndrome can vary greatly from person to person. However, some common symptoms include:
- Exocrine pancreatic insufficiency: This is a condition in which the pancreas does not produce enough digestive enzymes. This can lead to malnutrition and poor growth.
- Bone marrow dysfunction: This can lead to a low number of blood cells, which can cause anemia, increased risk of infection, and easy bruising or bleeding.
- Skeletal abnormalities: These can include short stature, abnormal bone development, and an increased risk of bone fractures.
- Short stature: This is often due to malnutrition and skeletal abnormalities.
Causes
Shwachman-Diamond syndrome is caused by mutations in the SBDS gene. This gene provides instructions for making a protein that is involved in the functioning of the pancreas and bone marrow.
Diagnosis
Diagnosis of Shwachman-Diamond syndrome is based on the presence of characteristic symptoms, a detailed patient history, a thorough clinical evaluation, and a variety of specialized tests.
Treatment
Treatment of Shwachman-Diamond syndrome is symptomatic and supportive. This may include enzyme replacement therapy for pancreatic insufficiency, blood transfusions for bone marrow dysfunction, and physical therapy for skeletal abnormalities.
See also
External links
- Medical encyclopedia article on Shwachman-Diamond syndrome
- Wikipedia's article - Shwachman-Diamond syndrome
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