Draft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome

• Published in: Annals of the New York Academy of Sciences 2011-12, Vol.1242 (1), p.40-55
• Main Authors: Dror, Yigal, Donadieu, Jean, Koglmeier, Jutta, Dodge, John, Toiviainen-Salo, Sanna, Makitie, Outi, Kerr, Elizabeth, Zeidler, Cornelia, Shimamura, Akiko, Shah, Neil, Cipolli, Marco, Kuijpers, Taco, Durie, Peter, Rommens, Johanna, Siderius, Liesbeth, Liu, Johnson M.
• Format: Article
• Language: English
• Subjects: Abnormalities; Bone marrow; Bone Marrow Diseases - diagnosis; Bone Marrow Diseases - therapy; Diagnosis; Evidence-Based Medicine; Exocrine Pancreatic Insufficiency - diagnosis; Exocrine Pancreatic Insufficiency - therapy; Genetics; Guidelines; Humans; Lipomatosis - diagnosis; Lipomatosis - therapy; Medicin och hälsovetenskap; Mutations; Organs; Phenotype; Practice Guidelines as Topic; Readers
• ISSN: 0077-8923; 1749-6632; 1749-6632
• DOI: 10.1111/j.1749-6632.2011.06349.x

Shwachman‐Diamond syndrome (SDS) is an autosomal recessive disorder characterized by pancreatic exocrine insufficiency and bone marrow failure, often associated with neurodevelopmental and skeletal abnormalities. Mutations in the SBDS gene have been shown to cause SDS. The purpose of this document is to provide draft guidelines for diagnosis, evaluation of organ and system abnormalities, and treatment of hematologic, pancreatic, dietary, dental, skeletal, and neurodevelopmental complications. New recommendations regarding diagnosis and management are presented, reflecting advances in understanding the genetic basis and clinical manifestations of the disease based on the consensus of experienced clinicians from Canada, Europe, and the United States. Whenever possible, evidence‐based conclusions are made, but as with other rare diseases, the data on SDS are often anecdotal. The authors welcome comments from readers.