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Previous Volume 340:1177-1187 April 15, 1999 Number 15 Next

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In the 1950s and 1960s, several inherited disorders of fluid and electrolyte metabolism were described in which the principal disturbance appeared to be a specific functional defect in the renal tubule. For most of these diseases, plausible physiologic explanations were presented, some more convincing than others. In the past five years, genetic and molecular approaches have elucidated the underlying molecular defects in several of these disorders. In some instances, predictions based on the initial physiologic studies have been confirmed; in others, the molecular answer has come as a surprise, raising further questions about the physiology of epithelial function. In several . . . [Full Text of this Article]

Mutations Affecting the Epithelial Sodium Channel

Liddle's Syndrome

Pseudohypoaldosteronism Type I

Mutations Affecting Diuretic-Sensitive Sodium-Transport Proteins

Bartter's Syndrome

Gitelman's Syndrome

Magnesium Excretion in Bartter's and Gitelman's Syndromes

Mutations Affecting an Extracellular Calcium-Sensing Receptor

Mutations Affecting a Voltage-Gated Chloride Channel

Mutations Associated with X-Linked Hypophosphatemic Rickets

Conclusions

Source Information

From the Department of Medicine, State University of New York Health Science Center, Syracuse (S.J.S.); the Departments of Medicine (L.M.G.-W., D.G.W.), Pediatrics (L.M.G.-W.), and Physiology (D.G.W.), University of Alabama at Birmingham, Birmingham; and the Medical Research Council Molecular Endocrinology Group, Hammersmith Hospital, London (R.V.T.).

Address reprint requests to Dr. Scheinman at the Department of Medicine, SUNY Health Science Center, 750 East Adams St., Syracuse, NY 13210, or at scheinms@vax.cs.hscsyr.edu.

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