Inheritance of Kidney and Urinary Tract Diseases
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
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TOPICS IN RENAL MEDICINE
Vittorio E. Andreucci, Series Editor Titles in the Series 1. 2. 3. 4. 5. 6. 7. 8. 9.
VE Andreucci: The Kidney in Pregnancy. 1986. AR Clarkson: IgA Nephropathy. 1987. V Cambi: Short Dialysis. 1987. RN Fine: Chronic Ambulatory Peritoneal Dialysis (CAPD) and Chronic Cycling Peritoneal Dialysis (CCPD) in Children. 1987. CYC Pak: Renal Stone Disease. 1987. CE Mogensen: The Kidney and Hypertension in Diabetes Mellitus. 1988. S Giovannetti: The Nutritional Treatment of Chronic Renal Failure. 1989. VE Andreucci: Vascular and Peritoneal Access for Dialysis. 1989. A Spitzer, ED Avner: Inheritance of Kidney and Urinary Tract Diseases. 1989.
INHERITANCE OF KIDNEY AND URINARY TRACT DISEASES
Edited by ADRIAN SPITZER Albert Einstein College of Medicine Bronx, New York
and ELLIS D. AVNER Children's Hospital and Medical Center Seattle, Washington
KLUWER ACADEMIC PUBLISHERS BOSTON IDORDRECHT ILONDON
Distributors for North America: Kluwer Academic Publishers, 101 Philip Drive, Assinippi Park, Norwell, Massachusetts 02061 USA Distributors for all other countries: Kluwer Academic Publishers Group, Distribution Centre, Post Office Box 322, 3300 AH Dordrecht, THE NETHERLANDS
Library of Congress Cataloging-in-Publication Data Inheritance of kidney and urinary tract diseases / edited by Adrian Spitzer and Ellis D. Avner. cm.-(Topics in renal medicine) p. Bibliography: p. Includes index. ISBN-13: 978-1-4612-8887-9 DOl: 10.1007/978-1-4613-1603-9
e-ISBN-13: 978-1-4613-1603-9
1. Kidneys-Diseases-Genetic aspects. 2. Urinary organs-Dis eases-Genetic aspects. I. Spitzer, Adrian. II. Avner, Ellis D. III. Series. RC903.154 1989 616.6'1042-dc20 89-8116 elP
Copyright
© 1990 by Kluwer Academic Publishers Softcover reprint of the hardcover 1st edition 1990 All rights reserved. No part of this publication may be reproduced, stored in a retrieval system or transmitted in any form or by any means, mechanical, photocopying, recording, or otherwise, without the prior written permission of the publisher, Kluwer Academic Publishers, 101 Philip Drive, Assinippi Park, Norwell, Massachusetts 02061.
CONTENTS
Contributing Authors Preface
Vll Xlll
I. GENERAL PRINCIPLES
1
1. Molecular biology, gene expression, and medicine
3
JAMES P. CAL VET
2. Approaches to the diagnosis of renal genetic disorders using DNA analysis
53
CLAIR A. fRANCOMANO, STYLIANOS E. ANTONARAKIS
II. PRIMARY GLOMERULAR DISEASES
65
67
3. Inheritance of glomerular diseases JEAN-PIERRE GRUNFELD, GUILLAUME BOBRIE, JEAN-MICHEL POCHET, MICHELINE LEVY
4. Immunogenetics of the glomerular basement membrane
89
CLIffORD E. KASHTAN, ALfRED f. MICHAEL
5. The inheritance of Alport's syndrome
107
FRANCES FLINTER, CYRIL CHANTLER
6. Genetics of familial hematuria
121
PAIGE KAPLAN, MARY ELLEN TURNER, BERNARD S. KAPLAN
7. Genetics of congenital and early infantile nephrotic syndromes
131
OLLI KOSKIMIES
v
vi
Contents
III. TUBULAR DISORDERS 8. Hereditary tubular transport abnormalities
139 141
PAUL GOODYER, VAZKEN M. DER KALOUSTIAN
9. Genetics
