Shwachman-Diamond Syndrome | Diagnosis & Treatment

How is Shwachman-Diamond syndrome diagnosed?

Doctors diagnose Shwachman-Diamond syndrome (SDS) with:

  • 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
  • skeletal survey to evaluate bones
  • bone marrow biopsy and aspiration - marrow may be removed by aspiration and a needle biopsy under local anesthesia and conscious sedation so that the child remains calm and comfortable during the procedure. In a bone marrow aspiration, a fluid specimen is removed from the bone marrow. In a needle biopsy, marrow cells (not fluid) are removed. These methods are always used together.
  • genetic testing

After all tests are completed, doctors will be able to outline the best treatment options.

What are the treatment options for SDS?

Children with SDS usually require care from specialists in hematology, gastroenterology, endocrinology and orthopedics. Treatment of SDS includes:

  • Pancreatic enzyme replacement – to help break food down into smaller, more absorbable nutrients
  • Intravenous antibiotics – especially when white blood cell counts are low
  • Growth factor therapy with granulocyte colony stimulating factor (G-CSF) – to stimulate the bone marrow to make more white blood cells
  • Orthopedic surgery – depending on specific skeletal problems
  • Blood transfusion – for children at high risk of anemia and/or bleeding
  • Ongoing regular dental care