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Draft consensus guidelines for diagnosis and treatment of Shwachman‐Diamond syndrome
Author(s) -
Dror Yigal,
Donadieu Jean,
Koglmeier Jutta,
Dodge John,
ToiviainenSalo Sanna,
Makitie Outi,
Kerr Elizabeth,
Zeidler Cornelia,
Shimamura Akiko,
Shah Neil,
Cipolli Marco,
Kuijpers Taco,
Durie Peter,
Rommens Johanna,
Siderius Liesbeth,
Liu Johnson M.
Publication year - 2011
Publication title -
annals of the new york academy of sciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.712
H-Index - 248
eISSN - 1749-6632
pISSN - 0077-8923
DOI - 10.1111/j.1749-6632.2011.06349.x
Subject(s) - exocrine pancreatic insufficiency , medicine , pediatrics , bone marrow failure , intensive care medicine , disease , skeletal survey , consensus conference , pathology , bioinformatics , cystic fibrosis , genetics , biology , stem cell , haematopoiesis , multiple myeloma
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.