Diagnosis and clinical biochemistry of inherited tubulopathies

Ann Clin Biochem. 2001 Sep;38(Pt 5):459-70. doi: 10.1177/000456320103800503.


Epithelial ion channels and transporter proteins have physiologically important roles throughout the length of the nephron. Discovering the molecular identities of tubular epithelial cell proteins and their functional roles has increased understanding of both renal physiology and tubular diseases. Defects in tubular handling of solutes may present with nephrocalcinosis or nephrolithiasis, rickets, acid base, electrolyte or blood pressure disturbances. Biochemical analysis of both serum and urine, together with clinical history and examination, remain fundamental for their diagnosis, whilst understanding of underlying molecular mechanisms allows appropriate management.

Publication types

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

MeSH terms

  • Fanconi Syndrome / diagnosis
  • Fanconi Syndrome / genetics
  • Fanconi Syndrome / pathology
  • Fanconi Syndrome / physiopathology
  • Genetic Diseases, Inborn / diagnosis*
  • Genetic Diseases, Inborn / genetics
  • Genetic Diseases, Inborn / pathology
  • Genetic Diseases, Inborn / physiopathology*
  • Humans
  • Kidney / pathology
  • Kidney / physiology
  • Kidney Diseases / diagnosis*
  • Kidney Diseases / genetics
  • Kidney Diseases / pathology
  • Kidney Diseases / physiopathology*
  • Kidney Tubules / pathology*
  • Kidney Tubules, Distal / pathology
  • Loop of Henle / pathology