The Genetics of Renal Cystic Disease

We are beginning to understand the underlying molecular pathology of inherited renal cystic disease. The development of techniques for manipulating large DNA molecules, combined with rapid progress in gene mapping strategies, has offered a new approach to the molecular pathology of human disease. These methods focus attention on the genetics of cystic disease rather than on the morphology and distribution of cysts. In this chapter, inherited renal cystic diseases are classified according to genetic principles, and the molecular genetic approach to autosomal dominant polycystic kidney disease is discussed in detail.