Fanconi Syndrome

Fanconi syndrome is a generalized proximal renal-tubular reabsorption defect causing loss of glucose, phosphate, amino acids, bicarbonate, and uric acid in urine. Clinical: glycosuria with normal blood glucose, hypophosphatemia, metabolic acidosis, polyuria/polydipsia, dehydration, rickets/osteomalacia, and growth retardation. Causes: inherited (cystinosis, Lowe, galactosemia, tyrosinemia) or acquired (multiple myeloma, heavy metals, drugs). Treatment: replace bicarbonate/phosphate/electrolytes, treat underlying cause.

Common Symptoms

Glycosuria; polyuria/polydipsia; dehydration; rickets/osteomalacia; acidosis; growth retardation; aminoaciduria

Causes and Pathogenesis

Proximal-tubular transport defect (inherited or acquired) causes massive urinary loss of solutes, leading to volume depletion, acidosis, and bone disease.

Treatment

Bicarbonate/phosphate/potassium replacement; treat underlying cause; vitamin-D for rickets; hydration

Preventive Measures

Identify/treat inherited/acquired causes; monitor electrolytes/bone disease.

Department to Visit

It is recommended to visit the Nephrology department; an appointment can be booked on this platform before the visit.

Warm reminder: The above information is for health science reference only and cannot replace professional medical diagnosis. If you have related symptoms, please seek medical attention at a regular hospital promptly.