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Fabry Disease

  • Book
  • © 2010

Overview

Editors:
  1. Deborah Elstein

    1. , Shaare Zedek Medical Center, Gaucher Clinic, Jerusalem, Israel

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    You can also search for this editor in PubMed   Google Scholar

  2. Gheona Altarescu

    1. , Shaare Zedek Medical Center, Genetics Unit, Jerusalem, Israel

    View editor publications

    You can also search for this editor in PubMed   Google Scholar

  3. Michael Beck

    1. University of Mainz, Children's Hospital, Mainz, Germany

    View editor publications

    You can also search for this editor in PubMed   Google Scholar

  • first full-length textbook about Fabry disease
  • includes chapters on the therapeutic management options
  • complete and stat-of-the-art range of pre-clinical studies
  • comprehensive chapters on clinical findings
  • all authors are experts with many years of clinical and research experience

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Table of contents (32 chapters)

  1. Front Matter

    Pages i-xxxvii
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  2. Pre-Clinical

    1. Front Matter

      Pages 1-1
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    2. Molecular Genetics of Fabry Disease and Genotype–Phenotype Correlation

      • Andreas Gal
      Pages 3-19

    3. The Structure of Human α-Galactosidase A and Implications for Fabry Disease

      • Abigail I. Guce, Scott C. Garman
      Pages 21-38

    4. Subcellular, Cellular and Organ Pathology of Fabry Disease

      • Milan Elleder
      Pages 39-79

    5. Biochemistry of Fabry Disease

      • Martin Hřebíček, Jana Ledvinová
      Pages 81-104

    6. Clinically Relevant Examples of Genotype–Phenotype Correlation

      • Gheona Altarescu
      Pages 105-109

    7. Laboratory Diagnosis of Fabry Disease

      • Bryan Winchester, Elisabeth Young
      Pages 111-132

    8. Biomarkers for Fabry Disease

      • Johannes M.F.G. Aerts
      Pages 133-152

    9. Fabry Disease Case Finding Studies in High-Risk Populations

      • Gere Sunder-Plassmann, Manuela Födinger
      Pages 153-162

    10. Small Molecule Drug Discovery for Fabry Disease

      • Omid Motabar, Ehud Goldin, Wei Zheng, Ellen Sidransky
      Pages 163-177

  3. Clinical

    1. Front Matter

      Pages 179-179
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    2. Clinical Manifestations of Fabry Disease: An Overview

      • Atul Mehta
      Pages 181-187

    3. The Heart in Fabry Disease – from Pathogenesis to Enzyme Replacement Therapy

      • Christoph Kampmann, Aleš Linhart
      Pages 189-210

    4. Renal Manifestations of Fabry Disease

      • David G. Warnock, Carmen Valbuena, Michael West, João Paulo Oliveira
      Pages 211-243

    5. Neurological Manifestations in Fabry Disease

      • Arndt Rolfs, Ales Dudesek, Jan Lukas, Tobias Böttcher
      Pages 245-257

    6. Dermatological Manifestations of Fabry Disease

      • Catherine H. Orteu
      Pages 259-274

    7. Histopathology of Skin in Fabry Disease

      • Carmen Navarro, Susana Teijeira, Saida Ortolano, Jose M. Fernandez, Beatriz San Millan, Carmen Fachal et al.
      Pages 275-292

    8. Bone and Muscle Involvement in Fabry Disease

      • Dominique P. Germain
      Pages 293-298

    9. The Eye in Fabry Disease

      • Andrea Sodi
      Pages 299-306
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Keywords

About this book

Fabry disease is an X-linked inborn error of metabolism wherein deficiency of a lysosomal enzyme results in systemic deposition of glycosphingolipids. Storage deposition, and hence pathological disease, occurs preferentially in renal glomerular and tubular epithelial cells, myocardial cells, heart valve fibrocytes, neurons of dorsal root ganglia, and in endothelial smooth muscle cells of blood vessels. Thus, Fabry disease is a multi-system disorder, albeit with considerable phenotypic heterogeneity in onset and in severity; however, it is progressive, exhibits extensive morbidity, and is life-threatening. Within the past two decades, there has been a radical change in the natural course Fabry disease by virtue of the availability of specific enzyme replacement therapy. Moreover, there has been a concerted effort to better understand the underlying pathology and equally to identify patients prior to the onset of irreversible end-organ damage. It is to be hoped that the future for patients with Fabry disease can be viewed with greater, albeit guarded, optimism. This state-of-the-art textbook attempts to bridge the span of pre-clinical studies, clinical finding, and management options in a readable but comprehensive manner for the medical practitioner as well as the interested non-medical reader.

Reviews

From the reviews:

“As the first book dedicated to Fabry Disease, this provides an extensive, detailed review of all current information about this rare disorder. … The information presented here will serve genetics specialists in the evaluation, surveillance, and management of affected patients with this rare disorder.  … It is also a well-written and informative tool for families affected by this disorder, helping them understand its natural course and available treatment. … This highly specialized, unique book on this rare disorder has no comparison.” (Luis F. Escobar, Doody’s Review Service, March, 2012)

Editors and Affiliations

  • , Shaare Zedek Medical Center, Gaucher Clinic, Jerusalem, Israel

    Deborah Elstein

  • , Shaare Zedek Medical Center, Genetics Unit, Jerusalem, Israel

    Gheona Altarescu

  • University of Mainz, Children's Hospital, Mainz, Germany

    Michael Beck

Bibliographic Information

  • Book Title: Fabry Disease

  • Editors: Deborah Elstein, Gheona Altarescu, Michael Beck

  • DOI: https://doi.org/10.1007/978-90-481-9033-1

  • Publisher: Springer Dordrecht

  • eBook Packages: Medicine, Medicine (R0)

  • Copyright Information: Springer Science+Business Media B.V. 2010

  • Hardcover ISBN: 978-90-481-9032-4Published: 12 August 2010

  • Softcover ISBN: 978-94-007-9884-7Published: 29 September 2014

  • eBook ISBN: 978-90-481-9033-1Published: 02 August 2010

  • Edition Number: 1

  • Number of Pages: XXXVII, 512

  • Topics: Metabolic Diseases, Human Genetics

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