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9780192624734

Inherited Disorders of the Kidney Investigation and Management

by ;
  • ISBN13:

    9780192624734

  • ISBN10:

    0192624733

  • Format: Hardcover
  • Copyright: 1998-11-12
  • Publisher: Oxford University Press

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Summary

Inherited disorders of the kidney are becoming important, not only in pediatric nephrological practice, but also in adult nephrology, representing a high proportion of patients with end-stage renal failure. In almost 50% of all children and in 15% of adults accepted for renal replacement therapy, the causative disorders have a hereditary basis. Many of these disorders are apparent at birth but may not cause renal failure until adolescence. Others may not present until adult life. The contribution of these disorders to adult nephrological practice has so far been understated in most of the existing textbooks. This book presents a practical approach to the investigation and management of patients with inherited renal disorders. The book is aimed at both established pediatric and adult nephrologists, as well as nephrologists in training, and will also be of interest to pediatricians, geneticists, and research workers in this field.

Table of Contents

Contributors xi
PART I. APPLICATION OF CLINICAL GENETICS TO RENAL DISEASE 1(104)
Developmental anatomy and physiology
3(18)
Adrian S. Woolf
Gene structure and regulation and the application of laboratory techniques
21(26)
Stephen Jeffery
Anand K. Saggar-Malik
Computers and genetic diseases
47(15)
Frances E. Elmslie
Robin A. Winter
Genetic counselling
62(7)
Michael A. Patton
Prenatal diagnosis
69(13)
Martin d'A. Crawfurd
Growth, development, and management of renal disease in children
82(23)
Heather Maxwell
PART II. A SYSTEMATIC APPROACH TO INHERITED RENAL DISORDERS 105(2)
Section A. Structural disorders 107(68)
Chromosomal and development anomalies
109(23)
Martin d'A. Crawfurd
Cystic diseases of the kidney
132(31)
Patricia A. Gabow
Familial and genetic aspects of primary vesicoureteric reflux
163(12)
Ross R. Bailey
Section B. Glomerular disorders 175(86)
Congenital nephrotic syndrome
177(15)
Marie-Claire Gubler
Disorders of the basement membrane: hereditary nephritis
192(23)
Frances A. Flinter
Disorders of the basement membrane: thin glomerular basement membrane syndrome, nail-patella syndrome, and collagen type III glomerulopathy
215(16)
Marie-Claire Gubler
Genetic aspects of primary glomerular diseases and haemolytic-uraemic syndrome
231(30)
Micheline Levy
Philippe Lesavre
Section C. Tubular and tubulointerstitial disorders 261(92)
Aminoacidurias and the Fanconi syndrome
263(15)
George B. Haycock
Nephrogenic diabetes insipidus
278(14)
Daniel G. Bichet
Renal tubular acidosis
292(29)
T. G. Feest
Bardet-Biedl syndrome
321(19)
Patrick S. Parfrey
Jane Green
John D. Harnett
Structural tubulointerstitial disease: nephronophthisis
340(9)
Michel Broyer
Claire Kleinknecht
Multicentric osteolysis with nephropathy
349(4)
Jean-Pierre Grunfeld
Section D. Metabolic disorders 353(106)
Fabry's disease and the lipidoses
355(29)
Robert J. Desnick
Christine M. Eng
Lecithin-cholesterol acyltransferase deficiency and the kidney
384(7)
D. S. Harry
A. F. Winder
Nephropathic cystinosis: growing into adulthood
391(15)
Linda K. Gallo
William A. Gahl
Glycogen storage diseases (von Gierke's disease)
406(6)
Jean-Pierre Grunfeld
The amyloidoses and familial Mediterranean fever
412(15)
S. R. Nelson
M. Pras
Genetic aspects of diabetic nephropathy
427(22)
R. W. Bilous
S. M. Mauer
G. C. Viberti
Sickle-cell anaemia and renal disease
449(10)
Stephen H. Morgan
Section E. Disorders associated with renal calculi 459(44)
The primary hyperoxalurias
461(15)
Stephen H. Morgan
Cystinuria
476(11)
Philippe Jaeger
Purine metabolism
487(16)
R. W. E. Watts
Section F. The phakomatoses 503(109)
Renal manifestations of neurofibromatosis and tuberous sclerosis
505(30)
D. S. Milliner
V. E. Torres
von Hippel-Lindau syndrome
535(27)
Hartmut P. H. Neumann
Jorg Laubenberger
Ulrich Wetterauer
Berton Zbar
Wilms tumour
562(29)
Christopher D. Mitchell
Mitochondrial cytopathies and other rare inherited diseases affecting the kidney
591(21)
J. Stewart Cameron
Index 612

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