Draft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome
| Autor: | Marco Cipolli, Akiko Shimamura, Yigal Dror, Outi Mäkitie, Elizabeth Kerr, Jean Donadieu, Jutta Köglmeier, Neil Shah, Taco W. Kuijpers, Cornelia Zeidler, Johanna M. Rommens, John A Dodge, Sanna Toiviainen-Salo, Liesbeth Siderius, Peter R. Durie, Johnson M. Liu |
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| Rok vydání: | 2011 |
| Předmět: |
0303 health sciences
Shwachman–Diamond syndrome Pediatrics medicine.medical_specialty Pathology business.industry General Neuroscience Pancreatic exocrine insufficiency Bone marrow failure MEDLINE Disease Evidence-based medicine SBDS medicine.disease Cystic fibrosis General Biochemistry Genetics and Molecular Biology 3. Good health 03 medical and health sciences 0302 clinical medicine History and Philosophy of Science 030220 oncology & carcinogenesis medicine business 030304 developmental biology |
| Zdroj: | Annals of the New York Academy of Sciences. 1242:40-55 |
| ISSN: | 0077-8923 |
| DOI: | 10.1111/j.1749-6632.2011.06349.x |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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