TY - JOUR
T1 - Draft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome
AU - Dror, Yigal
AU - Donadieu, Jean
AU - Koglmeier, Jutta
AU - Dodge, John
AU - Toiviainen-Salo, Sanna
AU - Makitie, Outi
AU - Kerr, Elizabeth
AU - Zeidler, Cornelia
AU - Shimamura, Akiko
AU - Shah, Neil
AU - Cipolli, Marco
AU - Kuijpers, Taco
AU - Durie, Peter
AU - Rommens, Johanna
AU - Siderius, Liesbeth
AU - Liu, Johnson M.
PY - 2011
Y1 - 2011
N2 - 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
AB - 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
U2 - https://doi.org/10.1111/j.1749-6632.2011.06349.x
DO - https://doi.org/10.1111/j.1749-6632.2011.06349.x
M3 - Article
C2 - 22191555
SN - 0077-8923
VL - 1242
SP - 40
EP - 55
JO - Annals of the New York Academy of Sciences
JF - Annals of the New York Academy of Sciences
IS - 1
ER -