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
- Wilson’s disease
- Cystinosis
- Idiopathic
- Galactosemia
- Hereditary fructose intolerance
- 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
Treatment:
- Treat any underlying cause
- Replace losses (phosphate, vit D supplements, electrolytes)
References:
