Inheritance of Kidney and Urinary Tract Diseases (Topics in Renal Medicine, 9)

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. Front Matter....Pages i-xiv Front Matter....Pages 1-1 Molecular Biology, Gene Expression, and Medicine....Pages 3-51 Approaches to the Diagnosis of Renal Genetic Disorders Using DNA Analysis....Pages 53-63 Front Matter....Pages 65-65 Inheritance of Glomerular Diseases....Pages 67-87 Immunogenetics of the Glomerular Basement Membrane....Pages 89-106 The Inheritance of Alport’s Syndrome....Pages 107-120 Genetics of Familial Hematuria....Pages 121-130 Genetics of Congenital and Early Infantile Nephrotic Syndromes....Pages 131-138 Front Matter....Pages 139-139 Hereditary Tubular Transport Abnormalities....Pages 141-165 Genetics of Vitamin-D-Resistant Rickets....Pages 167-176 Genetics of Renal Cystic Diseases....Pages 177-219 A Molecular Approach to Autosomal Dominant Polycystic Kidney Disease....Pages 221-246 Epidemiology of Autosomal Dominant Polycystic Kidney Disease: Implications for Genetic Counseling....Pages 247-264 Autosomal Recessive Polycystic Kidney Disease....Pages 265-276 The Inheritance of Nephronophthisis....Pages 277-292 Genetics of Urolithiasis....Pages 293-315 Genetics of Primary Hyperoxaluria....Pages 317-323 Front Matter....Pages 325-325 Heritable Malformations of the Kidney and Urinary Tract....Pages 327-400 The Molecular Biology of Complement Deficiency Syndromes....Pages 401-429 Back Matter....Pages 431-450