Fanconi syndrome

Fanconi syndrome is a dysfunction of proximal renal tubule function leading to renal loss of amino acids, glucose, bicarbonates and other electrolytes.

The cardinal features of Fanconi syndrome are:
  • Hyperaminoaciduria
  • Glucosuria despite a normal serum glucose
  • Phosphate wasting
  • Acidosis (type 2 renal tubular acidosis)
  • Proteinuria.

Defective absorption may also lead to low:
  • Potassium
  • Sodium
  • Calcium

Causes of Fanconi syndrome include:
  • Genetic
  • Acquired
    • Heavy metals
    • Drugs – cisplatin, gentamicin, valproate sodium
    • Toxins – paraquat, toluene
    • Immunoglobulin disorders – multiple myeloma, amyloid

Possible presentations/complications:
  • Rickets
  • Ostepenia
  • Pathological fractures
  • Proximal muscle/generalised weakness
  • Myalgia
  • Lab finding

  • Treat any underlying cause
  • Replace losses (phosphate, vit D supplements, electrolytes)

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