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Inheritance of Kidney and Urinary Tract Diseases

  • Adrian Spitzer
  • Ellis D. Avner

Part of the Topics in Renal Medicine book series (TIRM, volume 9)

Table of contents

  1. Front Matter
    Pages i-xiv
  2. General Principles

    1. Front Matter
      Pages 1-1
    2. Clair A. Francomano, Stylianos E. Antonarakis
      Pages 53-63
  3. Primary Glomerular Diseases

    1. Front Matter
      Pages 65-65
    2. Jean-Pierre Grünfeld, Guillaume Bobrie, Jean-Michel Pochet, Micheline Levy
      Pages 67-87
    3. Clifford E. Kashtan, Alfred F. Michael
      Pages 89-106
    4. Frances Flinter, Cyril Chantler
      Pages 107-120
    5. Paige Kaplan, Mary Ellen Turner, Bernard S. Kaplan
      Pages 121-130
  4. Tubular Disorders

    1. Front Matter
      Pages 139-139
    2. Paul R. Goodyer, Vazken M. Der Kaloustian
      Pages 141-165
    3. J. Edward Spence, Gad Kainer, James C. M. Chan
      Pages 167-176
    4. Vicente E. Torres
      Pages 177-219
    5. Gregory G. Germino, Stephen T. Reeders
      Pages 221-246
    6. Bernard S. Kaplan, Paige Kaplan
      Pages 265-276
    7. Claire Kleinknecht
      Pages 277-292
    8. F. Bruder Stapleton, Deborah P. Jones
      Pages 293-315
    9. Ernst P. Leumann, Albert Schinzel
      Pages 317-323
  5. Systemic Disorders

    1. Front Matter
      Pages 325-325
    2. Enid F. Gilbert-Barness, John M. Opitz, Lewis A. Barness
      Pages 327-400
    3. Rick A. Wetsel, Harvey R. Colten
      Pages 401-429
  6. Back Matter
    Pages 431-450

About this book

Introduction

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.

Keywords

DNA diagnosis gene gene expression genetics infection infections kidney medicine membrane mortality nutrition pediatrics syndromes transport

Editors and affiliations

  • Adrian Spitzer
    • 1
  • Ellis D. Avner
    • 2
  1. 1.Albert Einstein College of MedicineBronxUSA
  2. 2.Children’s Hospital and Medical CenterSeattleUSA

Bibliographic information