Fanconi syndrome describes generalized proximal renal tubule dysfunction causing impaired reabsorption of many urinary solutes.
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Clinical presentation
Clinical features include poor growth, fatigue, dehydration, polyuria, muscle weakness, and bone pain. Features on a basic blood panel include hypokalemia, hypophosphatemia and metabolic acidosis. Rickets may occur in children while osteomalacia may occur in adults 1.
Pathology
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, antiretrovirals), toxin exposure (e.g. heavy metals), or plasma cell dyscrasias (e.g. multiple myeloma, immunoglobulin nephropathy) 1.
Radiographic features
Plain radiograph
Rickets and osteomalacia, if present, may be visible on radiograph.
Ultrasound
Echogenic renal pyramids due to nephrocalcinosis, may be seen on ultrasound.
History and etymology
It is named after Swiss physician Guido Fanconi (1892-1979), who also described the unrelated Fanconi anemia 3.
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