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Contributors
1 Developmental anatomy and physiology 3
2 Gene structure and regulation and the application of laboratory techniques 21
3 Computers and genetic diseases 47
4 Genetic counselling 62
5 Prenatal diagnosis 69
6 Growth, development, and management of renal disease in children 82
7 Chromosomal and development anomalies 109
8 Cystic diseases of the kidney 132
9 Familial and genetic aspects of primary vesicoureteric reflux 163
10 Congenital nephrotic syndrome 177
11.1 Disorders of the basement membrane: hereditary nephritis 192
11.2 Disorders of the basement membrane: thin glomerular basement membrane syndrome, nail-patella syndrome, and collagen type III glomerulopathy 215
12 Genetic aspects of primary glomerular diseases and haemolytic-uraemic syndrome 231
13.1 Aminoacidurias and the Fanconi syndrome 263
13.2 Nephrogenic diabetes insipidus 278
13.3 Renal tubular acidosis 292
14.1 Bardet-Biedl syndrome 321
14.2 Structural tubulointerstitial disease: nephronophthisis 340
14.3 Multicentric ostcolysis with nephropathy 349
15 Fabry's disease and the lipidoses 355
16 Lecithin-cholesterol acyltransferase deficiency and the kidney 384
17 Nephropathic cystinosis: growing into adulthood 391
18 Glycogen storage diseases (von Gierke's disease) 406
19 The amyloidoses and familial Mediterranean fever 412
20 Genetic aspects of diabetic nephropathy 427
21 Sickle-cell anaemia and renal disease 449
22 The primary hyperoxalurias 461
23 Cystinuria 476
24 Purine metabolism 487
25 Renal manifestations of neurofibromatosis and tuberous sclerosis 505
26 von Hippel-Lindau syndrome 535
27 Wilms' tumour 562
28 Mitochondrial cytopathies and other rare inherited diseases affecting the kidney 591
Index 612