genitourinary disorders
Fanconi Syndrome
Key Points
Multiple defects impair proximal tubular reabsorption of glucose, phosphate, amino acids, bicarbonate, uric acid, water, potassium, and sodium. Fanconi syndrome is usually caused by a drug or accompanies another genetic disorder. In hereditary Fanconi syndrome, proximal tubular acidosis, hypophosphatemic rickets, hypokalemia, polyuria, and polydipsia usually appear in infancy. Test urine for glucosuria (particularly in the presence of normal serum glucose), phosphaturia, and aminoaciduria. Treat by giving combinations as needed of potassium or sodium with either bicarbonate or citrate, or sometimes with just a supplemental potassium salt. 