Herramientas y datos de investigación

About the condition

Shwachman-Diamond Syndrome is a genetic disorder that disrupts ribosome assembly and thereby protein biosynthesis. As a consequence, it puts patients at risk for several life-threatening and/or chronic conditions.

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Key considerations​

Each person and organ is affected to a different extent, but there are some patterns and commonalities. Many patients experience 

• digestive problems and exocrine pancreatic insufficiency resulting in pain and malnutrition

• immune system problems resulting in frequent or serious infections, often requiring hospitalization

• cognitive issues resulting in learning and behavioral challenges at home and school, and 

• problems with the blood-forming system (bone marrow), including a high risk of blood cancer (leukemia, MDS/AML), resulting in the need for monitoring with frequent blood draws, bone marrow biopsies; and a huge burden of fear and anxiety.

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Emergency considerations

• Neutropenia (from mild to severe) is a very common symptom of SDS. Many (but not all) SDS patients - especially infants and young children - have a fever protocol in place because febrile neutropenia is a medical emergency.

  • The patient should seek immediate medical attention if he/she develops a fever (temperature over 101.5F (38.5C). Evaluation should include rapid blood counts (CBS/diff/platelet counts), blood cultures, 
    and any other clinically indicated tests (such as throat and urine cultures, x-rays) to assess possible bacterial infections and sepsis risk. Treatment recommendations are tailored to each patient and may involve aggressive treatment with antibiotics. Consult the patient’s hematologists or other provider for guidance and emergency protocol details.

• Thrombocytopenia can also happen in SDS.​

• Exocrine Pancreatic Insufficiency (from mild to severe) is very common in SDS. If present, it is usually managed with Pancreatic Enzyme Replacement Therapy. ​

• Diabetes (similar to Cystic Fibrosis induced diabetes) can occur in SDS, but the exact prevalence is not known.