Overview
- Editors:
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Adrian Spitzer
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Albert Einstein College of Medicine, Bronx, USA
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Ellis D. Avner
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Children’s Hospital and Medical Center, Seattle, USA
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Table of contents (18 chapters)
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General Principles
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- Clair A. Francomano, Stylianos E. Antonarakis
Pages 53-63
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Primary Glomerular Diseases
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- Jean-Pierre Grünfeld, Guillaume Bobrie, Jean-Michel Pochet, Micheline Levy
Pages 67-87
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- Clifford E. Kashtan, Alfred F. Michael
Pages 89-106
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- Frances Flinter, Cyril Chantler
Pages 107-120
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- Paige Kaplan, Mary Ellen Turner, Bernard S. Kaplan
Pages 121-130
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Tubular Disorders
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Front Matter
Pages 139-139
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- Paul R. Goodyer, Vazken M. Der Kaloustian
Pages 141-165
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- J. Edward Spence, Gad Kainer, James C. M. Chan
Pages 167-176
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- Gregory G. Germino, Stephen T. Reeders
Pages 221-246
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- Bernard S. Kaplan, Paige Kaplan
Pages 265-276
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- F. Bruder Stapleton, Deborah P. Jones
Pages 293-315
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- Ernst P. Leumann, Albert Schinzel
Pages 317-323
About this book
Genetic disorders have emerged as a prominent cause of morbidity and mor tality among infants and adults. As many as 10% to 20% of hospital admis sions and at least 10% of the mortality in this age group are due to inherited diseases. There are at least two factors that have brought genetic disorders into the forefront of pediatrics. One is a great reduction in childhood mortality due to infections and nutritional deficiency states, and the other is the rapid progress made in the identification of genetic defects. Amniocentesis, chorionic villus sampling, and recombinant DNA technology have already had a tremendous impact on the practice of medicine. This is why the first two chapters of this volume are dedicated to general principles of molecular genetics and to a description of the techniques used to diagnose genetic disorders at the DNA level. The relevance of this new area of science to the study of inherited renal diseases is reflected in the large body of knowledge that has been generated regarding the association between various glomerular nephritides and genetic markers such as the HLA system, and even more impressively in the direct or indirect identification of abnormal genes or gene products in Alport's syn drome, autosomal dominant polycystic kidney disease, and Lowe's syndrome. These discoveries figure prominently in the pages of this book. Yet, the progress we have made has barely scratched the surface of the problem.
Editors and Affiliations
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Albert Einstein College of Medicine, Bronx, USA
Adrian Spitzer
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Children’s Hospital and Medical Center, Seattle, USA
Ellis D. Avner
