What is Shwachman-Diamond Syndrome?
Shwachman syndrome is a rare genetic disorder characterized by insufficient absorption (malabsorption) of necessary nutrients due to abnormal development of the pancreas (pancreatic insufficiency); impaired functioning of the bone marrow, resulting in a reduced number of certain blood cells; abnormal bone changes that …
What causes Shwachman-Diamond Syndrome?
SDS is caused by a mutation in a gene known as SBDS. 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.
Is Shwachman-Diamond Syndrome life threatening?
Some affected infants are born with a narrow rib cage and short ribs, which can cause life-threatening problems with breathing. The combination of skeletal abnormalities and slow growth results in short stature in most people with this disorder.
How is Shwachman-Diamond syndrome diagnosed?
How is Shwachman-Diamond syndrome diagnosed?
- blood work to evaluate red blood cells, white blood cells and platelets.
- kidney, liver and pancreatic function tests.
- pancreatic stimulation testing – to measure the ability of the pancreas to respond to secretin, a hormone involved in food absorption.
- stool collection.
When is SDS diagnosed?
Shwachman-Diamond Syndrome Symptoms 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.
What kind of blood disorder is Shwachman Diamond syndrome?
Shwachman Diamond syndrome (SDS) is a rare blood disorder that affects the pancreas, bone marrow and skeleton, as well as other organs. SDS is caused by a genetic mutation. What are the symptoms of Shwachman Diamond syndrome?
What are the signs and symptoms of Shwachman syndrome?
Signs & Symptoms. These may include increased tooth decay (dental caries), mouth ulcers, and/or disease of the tissues that surround and support the teeth (periodontal disease). The bone marrow dysfunction associated with Shwachman syndrome may result in abnormalities in the production of other types of blood cells.
How are stem cells used to treat Shwachman 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).
Why do children with Shwachman syndrome have smaller appetites?
Children with Shwachman syndrome may have larger or smaller appetites than normal and be smaller than expected for their ages, which may be due, in part, to malabsorption of certain necessary nutrients.