Draft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome

The Hospital For Sick Children, University of Toronto, Ontario, Canada.
Annals of the New York Academy of Sciences (Impact Factor: 4.31). 12/2011; 1242(1):40-55. DOI: 10.1111/j.1749-6632.2011.06349.x
Source: PubMed

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.

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Available from: Elizabeth N Kerr, Aug 14, 2015
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    ABSTRACT: Editorial The 12th EFLM (former EFCC) Continuous Postgraduate Course in Clinical Chemistry: New Trends in Classification, Diagnosis and Management of Gastrointestinal Diseases The Croatian Society of Medical Biochemists and Slovenian Association for Clinical Chemistry, together with the European Federation of Clinical Chemistry and Laboratory Medicine (EFLM), organized in 2012 the 12th postgraduate weekend course entitled 'New Trends in Classification, Diagnosis and Management of Gastrointestinal diseases (GID)’. The Course is an advance study course in the frame of the Inter-University Centre (IUC) studies Dubrovnik promoting continuing postgraduate education of professionals also in clinical chemistry and laboratory medicine. The diploma of the IUC is recognized world wide. The Course is held under the auspices of Internal Federation of Clinical Chemistry and Laboratory Medicine (IFCC). In this book the state-of-the-art on gastrointestinal classification and epidemiology as well as new approach to diagnosis and management of GID is presented by well-known experts. These renowned experts in different fields have tried to cover the clinical and laboratory aspects of gastrointestinal diseases with the accent to gastrointestinal nutrition-related disease, gastrointestinal disease in children, chronic gastrointestinal diseases and gastrointestinal oncology. Integrated knowledge of the authors and the material prepared by these experts is intended to provide updated information of supreme quality to the reader interested in the field. The book contains two articles published in the Journal Biochemia Medica by generous permission of the Editor-in-Chief and Publisher of the journal. Elizabeta Topić Zagreb, November 2012
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