Fanconi syndrome
Pronunciation: fan-KOH-nee
A generalized dysfunction of the proximal renal tubules resulting in multiple transport defects and wasting of various substances.
Full Definition
Fanconi syndrome is a complex disorder characterized by generalized proximal tubular dysfunction, leading to impaired reabsorption of glucose, amino acids, phosphate, bicarbonate, and low-molecular-weight proteins. In pediatric patients, this can be hereditary (such as cystinosis or tyrosinemia) or acquired due to medications, toxins, or other diseases. Clinical manifestations include polyuria, polydipsia, failure to thrive, rickets, and metabolic acidosis. Laboratory findings typically show glucosuria with normal blood glucose, aminoaciduria, hypophosphatemia, and normal anion gap metabolic acidosis. The syndrome requires comprehensive metabolic management including phosphate and bicarbonate supplementation, and treatment of the underlying cause when possible.
Usage
Usage note: Capitalize 'Fanconi' as it is an eponymous syndrome; distinguish from Fanconi anemia, which is unrelated.
In Context
- "The patient's Fanconi syndrome was secondary to cystinosis with characteristic corneal crystals." — Genetic nephrology consultation
- "Laboratory workup confirmed Fanconi syndrome with glucosuria, aminoaciduria, and hypophosphatemia." — Metabolic assessment report