Fabry Disease

ISBN-13: 9789400798847 / Angielski / Miękka / 2014 / 512 str.

Deborah Elstein; Gheona Altarescu; Michael Beck

Opis

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.

Recenzje

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)

Spis treści

Pre-Clinical.- Molecular Genetics of Fabry Disease and Genotype–Phenotype Correlation.- The Structure of Human ?-Galactosidase A and Implications for Fabry Disease.- Subcellular, Cellular and Organ Pathology of Fabry Disease.- Biochemistry of Fabry Disease.- Clinically Relevant Examples of Genotype–Phenotype Correlation.- Laboratory Diagnosis of Fabry Disease.- Biomarkers for Fabry Disease.- Fabry Disease Case Finding Studies in High-Risk Populations.- Small Molecule Drug Discovery for Fabry Disease.- Clinical.- Clinical Manifestations of Fabry Disease: An Overview.- The Heart in Fabry Disease – from Pathogenesis to Enzyme Replacement Therapy.- Renal Manifestations of Fabry Disease.- Neurological Manifestations in Fabry Disease.- Dermatological Manifestations of Fabry Disease.- Histopathology of Skin in Fabry Disease.- Bone and Muscle Involvement in Fabry Disease.- The Eye in Fabry Disease.- Pulmonary, Ear and Less Commonly Appreciated Manifestations.- Neuropsychiatric Manifestations of AFD.- Genetic Counseling and Psychosocial Issues for Individuals and Their Families with Fabry Disease.- Fabry Disease in Females.- Fabry Disease in Pediatric Patients.- Experimental Studies in Mice on the Vasculopathy of Fabry Disease.- Management.- Overview.- Agalsidase Alfa in the Treatment of Anderson-Fabry Disease.- Agalsidase Beta Clinical Trials and Long Term Experience.- Analyses of Agalsidase Alfa and Agalsidase Beta for the Treatment of Fabry Disease.- Enzyme Replacement Therapy in Children with Fabry Disease.- Pharmacological Chaperone Therapy for Fabry Disease.- Potential Factors Influencing Treatment Outcomes.- Symptomatic and Ancillary Therapy.- The Price of Care Versus the Cost of Caring.

O autorze

Michael Beck, Jahrgang 1966, absolvierte nach der Hochschulreife und einer zweijährigen Wehrdienstzeit ein Praktikum mit anschließender Ausbildung zum Industrie- und Werbefotografen in Kombination mit Fachlabortechnik. In dieser Zeit erhielt er neben anderen Auszeichnungen zwei Bundespreise für fotografische Arbeiten. Darunter 1992 der Abschluss der Gesellenprüfung im Fotografenhandwerk als erster Bundessieger im Leistungswettbewerb des deutschen Handwerks. Neben der Ausbildereignungsprüfung an der Industrie- und Handelskammer sowie beruflichen Fortbildungsmaßnahmen bei renommierten Fotografen und Institutionen in Deutschland, Frankreich und den Niederlanden folgte auf eine Tätigkeit als festangestellter Werbefotograf das Studium der Architektur an der Fachhochschule Augsburg, das er im Jahr 1999 mit der Ernennung zum Diplom-Ingenieur beendete. Michael Beck lebt und arbeitet seither als Architekt und Fotograf in der Schweiz. Soweit möglich, verbringt er seine Freizeit mit Reisen, die durch ein ausgeprägtes Interesse für fremde Kulturen, Geschichte, Archäologie und Bauhistorie bestimmt werden. Bevorzugte Reiseziele sind neben den kulturellen Zentren Tibets die Bergregionen des Himalaya und des Karakorum sowie die kulturhistorischen Architekturrelikte Südostasiens und des indischen Subkontinents. Architekturaufnahmen und redaktionelle Beiträge wurden in diversen Fachzeitschriften veröffentlicht.