Fanconi Syndrome

• A generalized proximal tubule transport disorder, consisting of -
• hyperchloremic acidosis
• hypophosphatemia
• glucosuria
• aminoaciduria
• most patients also have hypokalemia.

Causes of the Fanconi syndrome:

• Primary
• Metabolic
  • Cystinosis
  • Galactosemia
  • Glycogen Storage Disease
  • Hereditary Fructose Intolerance
  • Metachromatic Leukodystrophy
  • Pyruvate Carboxylase Deficiency
  • Tyrosinemia
• Drugs/Toxins
  • Ifosfamide
  • Heavy Metal Poisoning
  • Aminoglycosides
• Nutritional
  • Vitamin D deficiency
• Wilson’s Disease
• Lowe’s Syndrome

CHLA Board Review 2005