Clinical Guidance

No genotype-phenotype correlations have been observed for any of the genes associated with SDS .

Source: GeneReviews — "Shwachman-Diamond Syndrome"

Diagnostic Criteria

No consensus clinical diagnostic criteria for Shwachman-Diamond syndrome (SDS) have been published.

Suggestive Findings

SDS should be suspected in individuals with any combination of the following clinical findings .

Exocrine pancreatic dysfunction

• Low serum concentrations of the pancreatic enzymes trypsinogen and/or isoamylase for age. Note: Measurement of trypsinogen concentration should be used in children age 3 years, and measurement of isoamylase concentration should be used in children age 3 years .

• Low levels of fecal elastase

• Evidence of pancreatic lipomatosis on imaging. Note: Pancreatic imaging can be normal early in the disease .

• Abnormal fecal fat balance study of a 72-hour stool collection (with exclusion of intestinal mucosal disease or cholestatic liver disease)

Source: GeneReviews — "Shwachman-Diamond Syndrome"

Differential Diagnosis

Features of Shwachman-Diamond syndrome (SDS) (e.g., poor growth and transient neutropenia) may have multiple causes in young children . Table 3. Genes of Interest in the Differential Diagnosis of Shwachman-Diamond Syndrome

Management Guidelines

Clinical practice guidelines for Shwachman-Diamond syndrome (SDS) have been published . Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with SDS, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 4. Shwachman-Diamond Syndrome: Recommended Evaluations Following Initial Diagnosis

Source: GeneReviews — "Shwachman-Diamond Syndrome"

Clinical Guidance

Prolonged use of cytokine and hematopoietic growth factors such as granulocyte-colony stimulation factor is cautioned against in view of their potential contribution to leukemic transformation . Some drugs (e.g., cyclophosphamide and busulfan) used in standard hematopoietic stem cell transplantation (HSCT) preparative regimens may not be suitable because of possible cardiac toxicity [, , , ].

Source: GeneReviews — "Shwachman-Diamond Syndrome"

Therapies Under Investigation

Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for information on clinical studies for a wide range of diseases and conditions. Note: There may not be clinical trials for this disorder.

Source: GeneReviews — "Shwachman-Diamond Syndrome"

Surveillance Guidelines

To monitor existing manifestations, the individual's response to supportive care, and the emergence of new manifestations – given the intermittent nature of some features of SDS and the evolution of the phenotype over time – the evaluations in are recommended [, , , ]. Table 6. Shwachman-Diamond Syndrome: Recommended Surveillance

Source: GeneReviews — "Shwachman-Diamond Syndrome"