Nephrology

Fanconi Syndrome song

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Fanconi Syndrome

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Key points in this song10

Fanconi syndrome is a generalized dysfunction of the proximal convoluted tubule causing urinary wasting of glucose, amino acids, phosphate, uric acid, potassium, bicarbonate, and water despite normal serum levels.
The hallmark is proximal renal tubular acidosis (type 2 RTA) due to impaired bicarbonate reabsorption, leading to a normal anion gap hyperchloremic metabolic acidosis.
In children, the most common cause is cystinosis; in adults, multiple myeloma (light chain deposition) is the classic association.
Wilson disease, galactosemia, hereditary fructose intolerance, and tyrosinemia are classic inherited metabolic causes that damage proximal tubule cells.
Tenofovir (antiretroviral used in HIV) is the classic drug-induced cause of Fanconi syndrome, causing mitochondrial toxicity in proximal tubule cells.
Lead poisoning and expired tetracycline are additional toxic causes to recognize.
Hypophosphatemia from phosphate wasting leads to rickets in children and osteomalacia in adults — a key downstream complication.
Glucosuria in the setting of a normal serum glucose is the classic distinguishing lab finding pointing to a proximal tubule defect.
Urine studies show low molecular weight proteinuria, phosphaturia, aminoaciduria, and glucosuria simultaneously — the "full package" of proximal dysfunction.
Treatment targets the underlying cause; phosphate and calcitriol supplementation address bone complications from phosphate wasting.