How is Shwachman-Diamond syndrome (SDS) diagnosed?

Updated: Nov 17, 2020
  • Author: Antoinette C Spoto-Cannons, MD, FAAP; Chief Editor: Hassan M Yaish, MD  more...
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Answer

According to a consensus at the international conference in 2002, persons diagnosed with Shwachman-Diamond syndrome must fulfill at least two of the following criteria: [80]

  • At least 2 of the following:

    • Chronic cytopenia(s) detected on at least 2 occasions over at least 3 months

    • Reduced marrow progenitors

    • Persistent elevation of hemoglobin F

    • Persistent RBC macrocytosis (not caused by nutritional deficiency)

  • At least one of the following:

    • Evidence of pancreatic lipomatosis

    • Reduced levels of at least 2 pancreatic enzymes adjusted to age

  • Positive genetic testing

  • First degree-family member with Shwachman-Diamond syndrome


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