Inherited renal disease and genetic counseling

Abstract

Inherited renal abnormalities and diseases are less common than acquired disorders. However, they are of great interest because their study results in increased understanding of the embryogenesis and physiology of the kidney, the pathogenesis of acquired disease, improved therapeutic approaches and accuracy of genetic counseling. Inherited defects of the kidney may be structural, functional or part of genetically transmitted systemic diseases that have major effects on renal structure and/or functions. Most structural defects of the kidney, with the exception of varying forms of cystic disease and the hereditary nephritides, are congenital and only rarely inherited in a Mendelian sense. The majority of genetically transmitted abnormalities of proximal and distal tubular function are caused by inborn metabolic errors or enzyme defects and deficiencies. Amniocentesis, ultrasonography and enzymatic assays have made the prenatal diagnosis of many inherited renal diseases possible so that more accurate counseling early therapeutic intervention may be provided.