aetiology

Last reviewed 01/2018

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    • outdated tetracycline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.