title: Draft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome.
abstract: 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.
authors.affiliation: The Hospital For Sick Children, University of Toronto, Ontario, Canada.
authors.forename: Yigal
authors.initials: Y
authors.lastname: Dror
authors.forename: Jean
authors.initials: J
authors.lastname: Donadieu
authors.forename: Jutta
authors.initials: J
authors.lastname: Koglmeier
authors.forename: John
authors.initials: J
authors.lastname: Dodge
authors.forename: Sanna
authors.initials: S
authors.lastname: Toiviainen-Salo
authors.forename: Outi
authors.initials: O
authors.lastname: Makitie
authors.forename: Elizabeth
authors.initials: E
authors.lastname: Kerr
authors.forename: Cornelia
authors.initials: C
authors.lastname: Zeidler
authors.forename: Akiko
authors.initials: A
authors.lastname: Shimamura
authors.forename: Neil
authors.initials: N
authors.lastname: Shah
authors.forename: Marco
authors.initials: M
authors.lastname: Cipolli
authors.forename: Taco
authors.initials: T
authors.lastname: Kuijpers
authors.forename: Peter
authors.initials: P
authors.lastname: Durie
authors.forename: Johanna
authors.initials: J
authors.lastname: Rommens
authors.forename: Liesbeth
authors.initials: L
authors.lastname: Siderius
authors.forename: Johnson M
authors.initials: JM
authors.lastname: Liu
mesh_terms: D001855:Bone Marrow Diseases / Q000175:diagnosis* / Q000628:therapy*; D019317:Evidence-Based Medicine; D010188:Exocrine Pancreatic Insufficiency / Q000175:diagnosis* / Q000628:therapy*; D006801:Humans; D008068:Lipomatosis / Q000175:diagnosis* / Q000628:therapy*; D010641:Phenotype; D017410:Practice Guidelines as Topic; D000081003:Shwachman-Diamond Syndrome