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Aetiology

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

Authoring team

Cystinosis is the most common cause in children. However, any form of renal tubular damage may be responsible, for example:

  • multiple myeloma

  • nephrotic syndrome

  • Sjogren's syndrome

  • other metabolic disorders such as:
    • Lowe's syndrome
    • galactosaemia
    • hereditary fructose intolerence
    • tyrosinaemia

  • following shock and major surgery

  • heavy metal poisoning:
    • lead
    • mercury
    • copper (Wilson's disease)

  • in nutritional disorders such as:
    • scurvy
    • kwashiorkor
    • nutritional rickets

  • drugs:
    • outdated tetracycline
    • cisplatin
    • salicylates

  • in medullary cystic disease

Note idiopathic Fanconi syndrome may occur:

  • autosomal dominant inheritance; presents in adults with osteomalacia, rickets and deteriorating renal function
  • treatment: calcitriol; phosphate, potassium, sodium bicarbonate supplements

Note that a Fanconi syndrome in association with hepatic dysfunction suggests Wilsons, tyrosinaemia or galactosaemia.


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