Inherited Disorders of the Kidney: Investigation and Management

Part 1 - Applications of clinical genetics to renal disease; Chapter 1 - Developmental anatomy & physiology; Chapter 2 - Gene structure & regulation, and the application of laboratory techniques; Chapter 3 - Computers & genetic diseases; Chapter 4 - Genetic counselling; Chapter 5 - Pre-natal diagnosis of inherited; RENAL TRACT DISORDERS; Chapter 6 - Growth, development and management for renal failure in children; Part 2 - A systematic approach to inherited renal disorders; Section A - Structural disorders; Chapter 7 - Chromosomal & developmental anomalies of the kidney and urinary tract; Chapter 8 - Cystic diseases of the kidney; Chapter 9 - Familial & genetic aspects of primary vesico-ureteric reflux; Section B - Glomerular disorders; Chapter 10 - Congenital nephrotic syndrome; Chapter 11.1 Disorders of basement membrane: Hereditary nephritis; Chapter 11.2 - Disorders of basement membrane: Thin glomerular basement membrane syndrome and nail patella syndrome; Chapter 12 - Genetic aspects of primary glomerular diseases and haemolytic uraemic syndrome; Section C - Tubular disorders; Chater 13.1 - Functional disorders: Amnioaciduras and the fanconi syndrome; Chapter 13.2 - Functional disorders: Nephrogenic diabetes: insipidus; Chapter 13.3 - Functional disorders: RTA and miscellaneous disease; Chapter 14.1 - Bardet-Biedl Syndrome; Chapter 14.2 - Structural tubulointerstitial disease: Nephronophithisis; Chapter 14.2 - Structural tubulointerstitial disease: Multicentric osteolysis with nephropathy; Section D - Metabolic disorders; Chapter 15 - Fabry's disease and the lipidoses; Chapter 16 - Lethicin-cholesterol Acyltransferase deficiency and the kidney; Chapter 17 - Nephropathic cystinosis; Chapter 18 - Glycogen storage diseases (Von Gierke's disease); Chapter 19 - The amyloidosis and familial mediterranean fever; Chapter 20 - Genetic aspects of diabetic nephropathy; Chapter 21 - Sickle cell disease; Section E - Disorders associated with renal calculii; Chapter 22 - The primary hyperloxurias; Chapter 23 - Purine metabolism; Section F - The Phakomatoses; Chapter 25 - Renal manifestations of neurofibromatosis and tuberous sclerosis; Chapter 26 - Von-Hippel Lindau syndrome; Chapter 27 - Wilms' tumour; Chapter 28 - Mitochondrial cytopathies and other rare inherited diseases

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.