Is there a cure for Shwachman-Diamond Syndrome?
The only curative therapy for individuals with Shwachman syndrome is a hematopoietic stem cell transplant (HSCT). Hematopoietic stem cells are specialized cells found in the bone marrow (the soft spongy material found in long bones).
Is Shwachman-Diamond Syndrome life threatening?
Many affected individuals have problems with bone formation and growth, most often affecting the hips and knees. Low bone density is also frequently associated with this condition. Some affected infants are born with a narrow rib cage and short ribs, which can cause life-threatening problems with breathing.
What is Schwartzman Diamond syndrome?
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.
What is the life expectancy of a person with Shwachman-Diamond Syndrome?
Life expectancy of patients with SDS is expected to be >35 years. However, those with significant haematological abnormalities, including AML, have significant morbidity and mortality and subsequently reduced life expectancy.
Can adults have Shwachman-Diamond syndrome?
Classified as a form of bone marrow failure, Shwachman-Diamond syndrome (SDS) is a rare, inherited condition that is usually diagnosed in children but is increasingly diagnosed in adults. The frequency of SDS is unclear, but is estimated to affect about one in 75,000 people.
Is SDS genetic?
SDS is a recessively inherited disorder, meaning that a child must inherit two defective copies of the gene (one from each parent) to develop 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.
How is Shwachman Diamond diagnosed?
The diagnosis of Shwachman-Diamond syndrome is based on a clinical exam and other diagnostic tests. Blood tests to look at the white blood cells , red blood cells , and platelets may be helpful. Other tests may be done to check for the function of the pancreas, liver, and kidneys.
When is Shwachman-Diamond syndrome diagnosed?
When a child is born with Shwachman-Diamond syndrome, symptoms may show up by 4 to 6 months of age. However, some people do not show their symptoms at a young age. Rarely, teens and adults are diagnosed with SDS. A person may have some or all of the common symptoms linked to SDS.
When was Shwachman-Diamond Discovered?
SDS is named for Boston Children’s Hospital doctors Harry Shwachman, MD, and Louis Diamond, MD, who were among the researchers to first describe the condition in 1964. Most infants with SDS are born with the condition, with symptoms usually appearing by 4 to 6 months of age.
How is Shwachman-Diamond syndrome diagnosed?
Diagnosis. The diagnosis of Shwachman-Diamond syndrome is based on a clinical exam and other diagnostic tests. Blood tests to look at the white blood cells , red blood cells , and platelets may be helpful. Other tests may be done to check for the function of the pancreas, liver, and kidneys.
How is Shwachman-Diamond diagnosed?
Can adults have Shwachman Diamond Syndrome?