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• outdated tetracycline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.