Fanconi syndrome

Fanconi syndrome describes generalized proximal renal tubule dysfunction causing impaired reabsorption of many urinary solutes. 

Clinical features include poor growth, fatigue, dehydration, polyuria, muscle weakness, and bone pain. Features on a basic blood panel includes hypokalemia, hypophosphatemia and metabolic acidosis. Rickets may occur in children while osteomalacia may occur in adults 1.

Fanconi syndrome causes defects in glucose, amino acid, phosphate, urate, and bicarbonate reabsorption. It is classified as a type 2 renal tubular acidosis.

Fanconi syndrome may occur in either inherited or acquired forms. Inherited forms mainly present in childhood and may be due to genetic diseases including: galactosemia, Wilson disease, cystinosis, Lowe syndrome, and hereditary fructose intolerance 1,2. Secondary or acquired forms have been described due to drugs (e.g. aminoglycosides, anti-retrovirals), toxin exposure (e.g. heavy metals), or plasma cell dyscrasias (e.g. multiple myeloma, immunoglobulin nephropathy) 1.

Rickets and osteomalacia, if present, may be visible on radiograph.

It is named after Swiss physician Guido Fanconi (1892-1979), who also described the unrelated Fanconi anemia 3.

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Article information

rID: 59579
System: Urogenital
Tag: cases
Synonyms or Alternate Spellings:
  • Fanconi's syndrome

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