SHWACHMAN-DIAMOND SYNDROME

Course overview

SCHWACHMAN-DIAMOND SYNDROME (SDS) IS AN AUTOSOMAL RECESSIVE DISORDER THAT IS THE SECOND MOST COMMON CAUSE OF EXOCRINE PANCREATIC INSUFFICIENCY AFTER CYSTIC FIBROSIS. IT PRESENTS WITH THE COMMON TRIAD OF EXOCRINE PANCREATIC DYSFUNCTION, SKELETAL ABNORMALITIES, AND BONE MARROW DYSFUNCTION. HOWEVER, CARDIAC ABNORMALITIES, IMMUNE DYSFUNCTION, AND HEMATOLOGIC DISORDERS ARE ALSO REPORTED. A MUTATION IN THE SHWACHMAN-BODIAN-DIAMOND SYNDROME (SBDS) GENE ON CHROMOSOME 7 IS FOUND IN 90% OF THE CASES. THIS ACTIVITY REVIEWS THE CLINICAL PRESENTATION, DIAGNOSTIC WORKUP, MANAGEMENT, AND POTENTIAL COMPLICATIONS OF THIS DISORDER AND HIGHLIGHTS THE ROLE OF THE INTERPROFESSIONAL TEAM IN CARING FOR AFFECTED PATIENTS.