Hereditary renal tubular disorders

Semin Nephrol. 2009 Jul;29(4):399-411. doi: 10.1016/j.semnephrol.2009.03.013.


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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Acidosis, Renal Tubular / genetics
  • Acidosis, Renal Tubular / metabolism
  • Bartter Syndrome / genetics
  • Bartter Syndrome / metabolism
  • Diabetes Insipidus, Nephrogenic / genetics
  • Diabetes Insipidus, Nephrogenic / metabolism
  • Fanconi Syndrome / genetics
  • Fanconi Syndrome / metabolism
  • Gitelman Syndrome / genetics
  • Gitelman Syndrome / metabolism
  • Humans
  • Kidney Diseases / genetics*
  • Kidney Diseases / metabolism*
  • Kidney Tubules / metabolism*
  • Kidney Tubules, Collecting / metabolism
  • Loop of Henle / metabolism
  • Models, Biological
  • Pseudohypoaldosteronism / genetics
  • Pseudohypoaldosteronism / metabolism