Hereditary Renal Tubular Disorders

Summary 

The multiple and complex functions of the renal tubule in regulating water, electrolyte, and mineral homeostasis make it prone to numerous genetic abnormalities resulting in malfunction. The phenotypic expression depends on the mode of interference with the normal physiology of the segment affected, and whether the abnormality is caused by loss of function or, less commonly, gain of function. In this review we address the current knowledge about the association between the genetics and clinical manifestations and treatment of representative disorders affecting the length of the nephron.

Keywords: Dent disease, Bartter syndrome, Gitelman syndrome, Liddle syndrome, apparent mineralocorticoid excess, pseudohypoaldosteronism type I, Gordon syndrome, nephrogenic diabetes insipidus