Dror and Freedman listed diagnostic criteria for a patient with Shwachman-Diamond Syndrome. The authors are from the Hospital for Sick Children in Toronto.



(1) evidence of exocrine pancreatic dysfunction

(2) one or more hematologic abnormalities


Evidence of exocrine pancreatic dysfunction – one or more of the following:

(1) abnormal quantitative pancreatic stimulation test

(2) serum cationic trypsinogen below the lower limit of normal reference range

(3) abnormal 72 hour fecal fat analysis AND evidence of pancreatic lipomatosis on an imaging study


Hematologic abnormalities:

(1) chronic cytopenia (one or more lineages)

(2) myelodysplasia



• A chronic cytopenia was present on 2 or more occasions at least 6 weeks apart).

• Neutropenia as defined as an absolute neutrophil count < 1,500 per microliter.

• Anemia was defined as a hemoglobin below the lower limit of the reference range.

• Thrombocytopenia was defined as a platelet count < 150,000 per microliter.


Supportive evidence:

(1) short stature

(2) skeletal abnormalities

(3) hepatic dysfunction


Need to exclude:

(1) cystic fibrosis

(2) Pearson syndrome

(3) celiac disease

(4) cartilage hair hypoplasia


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