Draft consensus guidelines for diagnosis and treatment of Shwachman‐Diamond syndrome
Open Access
- 22 December 2011
- journal article
- review article
- Published by Wiley in Annals of the New York Academy of Sciences
- Vol. 1242 (1), 40-55
- https://doi.org/10.1111/j.1749-6632.2011.06349.x
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.Keywords
This publication has 68 references indexed in Scilit:
- The Natural History of Shwachman-Diamond Syndrome–Associated Liver Disease from Childhood to AdulthoodThe Journal of Pediatrics, 2009
- Cystic Fibrosis Foundation Evidence-Based Guidelines for Management of Infants with Cystic FibrosisThe Journal of Pediatrics, 2009
- The Shwachman-Bodian-Diamond syndrome gene mutations cause a neonatal form of spondylometaphysial dysplasia (SMD) resembling SMD Sedaghatian typeJournal of Medical Genetics, 2007
- The incidence of leukemia and mortality from sepsis in patients with severe congenital neutropenia receiving long-term G-CSF therapyBlood, 2006
- Shwachman syndrome: Exocrine pancreatic dysfunction and variable phenotypic expressionGastroenterology, 1996
- Frequent Myocardial Lesions in Shwachman's SyndromeActa Paediatrica, 1984
- UNUSUAL SURFACE DISTRIBUTION OF CONCANAVALIN A REFLECTS A CYTOSKELETAL DEFECT IN NEUTROPHILS IN SHWACHMAN'S SYNDROMEThe Lancet, 1982
- Shwachman's syndrome. A review of 21 cases.Archives of Disease in Childhood, 1980
- The syndrome of pancreatic insufficiency and bone marrow dysfunctionThe Journal of Pediatrics, 1964
- Congenital Hypoplasia of the Exocrine PancreasActa Paediatrica, 1964