MRCEM Notes

Fanconi syndrome

Fanconi syndrome describes a generalised disorder of renal tubular transport in the proximal convoluted tubule resulting in:
  • type 2 (proximal) renal tubular acidosis
  • polyuria
  • aminoaciduria
  • glycosuria
  • phosphaturia
  • osteomalacia

Causes
  • cystinosis (most common cause in children)
  • Sjogren's syndrome
  • multiple myeloma
  • nephrotic syndrome
  • Wilson's disease
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