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Shwachman-Diamond Syndrome

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Bone Marrow Failure

Part of the book series: Pediatric Oncology ((PEDIATRICO))

Abstract

Shwachman-Diamond syndrome (SDS) is an inherited bone marrow failure syndrome classically characterized by neutropenia and exocrine pancreatic dysfunction along with a substantial risk of aplastic anemia and malignant transformation. Many additional organ systems are affected including the pancreas, skeletal, liver, central nervous systems, and others. The majority of affected individuals carry biallelic mutations in the Shwachman-Bodian-Diamond syndrome (SBDS) gene. SBDS functions in ribosomal biogenesis as well as other cellular processes. In this chapter we will summarize clinical manifestations of SDS and diagnostic and treatment approaches, as well as highlight novel advances in the understanding of the molecular pathogenesis of SDS.

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Acknowledgments

This work was supported by NIH/NIDDK R24 DK099808-03 (A.S.).

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Authors and Affiliations

  1. Division of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH, USA

    Kasiani C. Myers

  2. Division of Pediatric Hematology/Oncology, Boston Children’s Hospital, Dana Farber Cancer Institute, Boston, MA, USA

    Akiko Shimamura

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  1. Kasiani C. Myers
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  2. Akiko Shimamura
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Correspondence to Kasiani C. Myers .

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Editors and Affiliations

  1. Department of Pediatrics, Yale School of Medicine, New Haven, CT, USA

    Gary M. Kupfer

  2. Department of Pediatrics, George Washington University, Washington, DC, USA

    Gregory H. Reaman

  3. Medpace, Cincinnati, OH, USA

    Franklin O. Smith

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Myers, K.C., Shimamura, A. (2018). Shwachman-Diamond Syndrome. In: Kupfer, G., Reaman, G., Smith, F. (eds) Bone Marrow Failure. Pediatric Oncology. Springer, Cham. https://doi.org/10.1007/978-3-319-61421-2_8

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  • DOI: https://doi.org/10.1007/978-3-319-61421-2_8

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