Lisa M Guay Woodford

Inherited renal tubular disorders involve a variety of defects in renal tubular transport processes and their regulation. These disorders generally are transmitted as single gene defects (Mendelian traits), and they provide a unique resource to dissect the complex molecular mechanisms involved in tubular solute transport. An integrated approach using the tools of molecular genetics, molecular biology, and physiology has been applied in the 1990s to identify defects in transporters, channels, receptors, and enzymes involved in epithelial transport. These investigations have added substantial insight into the molecular mechanisms involved in renal solute transport and the molecular pathogenesis of inherited renal tubular disorders. This chapter focuses on the inherited renal tubular disorders, highlights their molecular defects, and discusses models to explain their underlying pathogenesis.

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